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gnomad-genetics-mcp-server

gnomad-genetics-mcp-server: get variant

gnomad_get_variant
Read-onlyIdempotent

Fetch the full gnomAD population record for one or more variants — allele count/number/frequency overall and broken down per genetic-ancestry group, the filtering allele frequency (faf95) to test against a disease threshold such as ACMG/AMP BA1 or BS1, homozygote and hemizygote counts, quality flags, each callset's own counts and QC filters with a qc_status, the most severe transcript consequence with its HGVS and LOFTEE loss-of-function call (confidence, filter, flags) beside the same on the gene's MANE Select (else canonical) transcript, gnomAD's manual LoF curation verdicts, in-silico predictor scores, and joined ClinVar clinical significance. The "how common, is it benign" answer in one call. A qc_status of filtered means the variant failed gnomAD QC in every callset carrying it (gnomAD's browser hides these by default; AC0 means no high-quality carrier), so treat its counts as low-confidence rather than an observed frequency. Accepts a batch of up to 25 IDs (chrom-pos-ref-alt or rsID) with per-item partial success: a malformed or absent ID lands in failed[] — with its reason and a recovery hint — without failing the others. A coordinate ID carries no build: an absent one whose string also lifts over from the other build fails as variant_not_found_other_build, with the lifted IDs on the dataset's build in candidates, while a string valid on both builds can name a different variant on each, which no not-found path can see — so keep IDs on the dataset's build. variant_not_found means the variant is not in the chosen dataset — pair with gnomad_get_coverage to confirm the position is callable before concluding true absence. Data source: gnomAD (Broad Institute) — https://gnomad.broadinstitute.org/

Tool call template

Replace each placeholder with a value matching the input schema. Only required parameters are included; add optional parameters as needed.

{
  "id": 1,
  "jsonrpc": "2.0",
  "method": "tools/call",
  "params": {
    "arguments": {
      "variants": "<variants>"
    },
    "name": "gnomad_get_variant"
  }
}

Input Schema

NameRequiredDescriptionDefault
datasetNognomAD dataset, default gnomad_r4: gnomad_r4 and its subset gnomad_r4_non_ukb (GRCh38); gnomad_r3 and its subsets gnomad_r3_controls_and_biobanks, gnomad_r3_non_cancer, gnomad_r3_non_neuro, gnomad_r3_non_topmed, gnomad_r3_non_v2 (GRCh38); gnomad_r2_1 and its subsets gnomad_r2_1_controls, gnomad_r2_1_non_cancer, gnomad_r2_1_non_neuro, gnomad_r2_1_non_topmed (GRCh37); exac (GRCh37). A subset keeps only part of its parent release's samples (non_cancer leaves out cancer-study samples, non_ukb UK Biobank's) and can leave a callset unchanged: gnomad_r4_non_ukb genome counts equal gnomad_r4's, and gnomad_r2_1_non_cancer genome counts equal gnomad_r2_1's. No subset publishes joint data, and gnomAD publishes no subset coverage or constraint, so those come from the parent. Echoed in output.
variantsYes1–25 variant IDs (chrom-pos-ref-alt or rsID) to look up in one batched call.
reference_genomeNoReference build. Derived from dataset when omitted: GRCh38 for gnomad_r4, gnomad_r3, and their subsets; GRCh37 for gnomad_r2_1, its subsets, and exac. If supplied it must match the dataset, or the call is rejected. Keep aligned with ensembl coordinates.

Output Schema

NameRequiredDescriptionDefault
errorNoPresent when the call failed. Absent on success.
foundNoVariants resolved to a population record.
failedNoPer-item failures, in input order: malformed IDs, variants absent from the dataset, or upstream errors — each with its reason and recovery hint.
noticeNoNon-fatal notice when optional ClinVar annotation was unavailable, and when the dataset is a gnomad_r4 or gnomad_r3 subset, whose records carry no filtering allele frequency of their own (it names the parent release).
datasetNoEffective gnomAD dataset used for the batch.
reference_genomeNoEffective reference build used for the batch.

Schema Changelog

Changes observed during successful MCP inspections.

  1. Changed20 schema fields changed
    • changedInput schema / properties / dataset / description
      Previous value: -"gnomAD dataset: gnomad_r4 (GRCh38, default), gnomad_r3 (GRCh38), gnomad_r2_1 (GRCh37), exac (GRCh37). Echoed in output."New value: +"gnomAD dataset, default gnomad_r4: gnomad_r4 and its subset gnomad_r4_non_ukb (GRCh38); gnomad_r3 and its subsets gnomad_r3_controls_and_biobanks, gnomad_r3_non_cancer, gnomad_r3_non_neuro, gnomad_r3_non_topmed, gnomad_r3_non_v2 (GRCh38); gnomad_r2_1 and its subsets gnomad_r2_1_controls, gnomad_r2_1_non_cancer, gnomad_r2_1_non_neuro, gnomad_r2_1_non_topmed (GRCh37); exac (GRCh37). A subset keeps only part of its parent release's samples (non_cancer leaves out cancer-study samples, non_ukb UK Biobank's) and can leave a callset unchanged: gnomad_r4_non_ukb genome counts equal gnomad_r4's, and gnomad_r2_1_non_cancer genome counts equal gnomad_r2_1's. No subset publishes joint data, and gnomAD publishes no subset coverage or constraint, so those come from the parent. Echoed in output."
    • changedInput schema / properties / dataset / enum
      Previous value: -[
      -  "gnomad_r4",
      -  "gnomad_r3",
      -  "gnomad_r2_1",
      -  "exac"
      -]New value: +[
      +  "gnomad_r4",
      +  "gnomad_r4_non_ukb",
      +  "gnomad_r3",
      +  "gnomad_r3_controls_and_biobanks",
      +  "gnomad_r3_non_cancer",
      +  "gnomad_r3_non_neuro",
      +  "gnomad_r3_non_topmed",
      +  "gnomad_r3_non_v2",
      +  "gnomad_r2_1",
      +  "gnomad_r2_1_controls",
      +  "gnomad_r2_1_non_neuro",
      +  "gnomad_r2_1_non_cancer",
      +  "gnomad_r2_1_non_topmed",
      +  "exac"
      +]
    • changedInput schema / properties / reference_genome / description
      Previous value: -"Reference build. Derived from dataset when omitted (v4/v3=GRCh38, v2.1/ExAC=GRCh37). If supplied it must match the dataset, or the call is rejected. Keep aligned with ensembl coordinates."New value: +"Reference build. Derived from dataset when omitted: GRCh38 for gnomad_r4, gnomad_r3, and their subsets; GRCh37 for gnomad_r2_1, its subsets, and exac. If supplied it must match the dataset, or the call is rejected. Keep aligned with ensembl coordinates."
    • changedOutput schema / properties / found / items / properties / ac / description
      Previous value: -"Overall allele count — gnomAD's joint exome + genome count on gnomad_r4, the sum across carried callset(s) on datasets without joint data."New value: +"Overall allele count — gnomAD's joint exome + genome count on gnomad_r4, the sum across carried callset(s) on every other dataset, gnomad_r4_non_ukb and the other subsets included, since none publishes joint data."
    • changedOutput schema / properties / found / items / properties / an / description
      Previous value: -"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on gnomad_r3, gnomad_r2_1, and exac (no joint data), the sum across carried callset(s), a callset that failed QC included — callsets carries each one's own AN and filters."New value: +"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on every other dataset (no joint data — gnomad_r4_non_ukb and every other subset, gnomad_r3, gnomad_r2_1, exac), the sum across carried callset(s), a callset that failed QC included — callsets carries each one's own AN and filters."
    • changedOutput schema / properties / found / items / properties / callsets / properties / exome / anyOf
      Previous value: -[
      -  {
      -    "additionalProperties": false,
      -    "properties": {
      -      "ac": {
      -        "description": "Allele count in this callset alone.",
      -        "type": "number"
      -      },
      -      "af": {
      -        "description": "This callset's allele frequency, ac/an; null when an is 0.",
      -        "type": [
      -          "number",
      -          "null"
      -        ]
      -      },
      -      "an": {
      -        "description": "Allele number in this callset alone.",
      -        "type": "number"
      -      },
      -      "filters": {
      -        "anyOf": [
      -          {
      -            "items": {
      -              "type": "string"
      -            },
      -            "type": "array"
      -          },
      -          {
      -            "type": "null"
      -          }
      -        ],
      -        "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
      -      },
      -      "hemizygote_count": {
      -        "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
      -        "type": [
      -          "number",
      -          "null"
      -        ]
      -      },
      -      "homozygote_count": {
      -        "description": "Homozygote count in this callset.",
      -        "type": "number"
      -      }
      -    },
      -    "required": [
      -      "ac",
      -      "an",
      -      "af",
      -      "homozygote_count",
      -      "hemizygote_count",
      -      "filters"
      -    ],
      -    "type": "object"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]New value: +[
      +  {
      +    "additionalProperties": false,
      +    "properties": {
      +      "ac": {
      +        "description": "Allele count in this callset alone.",
      +        "type": "number"
      +      },
      +      "af": {
      +        "description": "This callset's allele frequency, ac/an; null when an is 0.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "an": {
      +        "description": "Allele number in this callset alone.",
      +        "type": "number"
      +      },
      +      "faf95": {
      +        "anyOf": [
      +          {
      +            "additionalProperties": false,
      +            "properties": {
      +              "group": {
      +                "description": "Genetic-ancestry group the value comes from (e.g. nfe); null when gnomAD names none.",
      +                "type": [
      +                  "string",
      +                  "null"
      +                ]
      +              },
      +              "value": {
      +                "description": "The FAF95: the lower bound of the 95% confidence interval of the group's allele frequency.",
      +                "type": "number"
      +              }
      +            },
      +            "required": [
      +              "value",
      +              "group"
      +            ],
      +            "type": "object"
      +          },
      +          {
      +            "type": "null"
      +          }
      +        ],
      +        "description": "This callset's own filtering allele frequency (GroupMax FAF95, as the record's faf95). Null when gnomAD reports none, as for AC 0 and singleton variants and on exac, and on a gnomad_r4 or gnomad_r3 subset, whose variant record carries the parent release's FAF, not the subset's."
      +      },
      +      "filters": {
      +        "anyOf": [
      +          {
      +            "items": {
      +              "type": "string"
      +            },
      +            "type": "array"
      +          },
      +          {
      +            "type": "null"
      +          }
      +        ],
      +        "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
      +      },
      +      "hemizygote_count": {
      +        "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "homozygote_count": {
      +        "description": "Homozygote count in this callset.",
      +        "type": "number"
      +      }
      +    },
      +    "required": [
      +      "ac",
      +      "an",
      +      "af",
      +      "homozygote_count",
      +      "hemizygote_count",
      +      "filters",
      +      "faf95"
      +    ],
      +    "type": "object"
      +  },
      +  {
      +    "type": "null"
      +  }
      +]
    • changedOutput schema / properties / found / items / properties / callsets / properties / genome / anyOf
      Previous value: -[
      -  {
      -    "additionalProperties": false,
      -    "properties": {
      -      "ac": {
      -        "description": "Allele count in this callset alone.",
      -        "type": "number"
      -      },
      -      "af": {
      -        "description": "This callset's allele frequency, ac/an; null when an is 0.",
      -        "type": [
      -          "number",
      -          "null"
      -        ]
      -      },
      -      "an": {
      -        "description": "Allele number in this callset alone.",
      -        "type": "number"
      -      },
      -      "filters": {
      -        "anyOf": [
      -          {
      -            "items": {
      -              "type": "string"
      -            },
      -            "type": "array"
      -          },
      -          {
      -            "type": "null"
      -          }
      -        ],
      -        "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
      -      },
      -      "hemizygote_count": {
      -        "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
      -        "type": [
      -          "number",
      -          "null"
      -        ]
      -      },
      -      "homozygote_count": {
      -        "description": "Homozygote count in this callset.",
      -        "type": "number"
      -      }
      -    },
      -    "required": [
      -      "ac",
      -      "an",
      -      "af",
      -      "homozygote_count",
      -      "hemizygote_count",
      -      "filters"
      -    ],
      -    "type": "object"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]New value: +[
      +  {
      +    "additionalProperties": false,
      +    "properties": {
      +      "ac": {
      +        "description": "Allele count in this callset alone.",
      +        "type": "number"
      +      },
      +      "af": {
      +        "description": "This callset's allele frequency, ac/an; null when an is 0.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "an": {
      +        "description": "Allele number in this callset alone.",
      +        "type": "number"
      +      },
      +      "faf95": {
      +        "anyOf": [
      +          {
      +            "additionalProperties": false,
      +            "properties": {
      +              "group": {
      +                "description": "Genetic-ancestry group the value comes from (e.g. nfe); null when gnomAD names none.",
      +                "type": [
      +                  "string",
      +                  "null"
      +                ]
      +              },
      +              "value": {
      +                "description": "The FAF95: the lower bound of the 95% confidence interval of the group's allele frequency.",
      +                "type": "number"
      +              }
      +            },
      +            "required": [
      +              "value",
      +              "group"
      +            ],
      +            "type": "object"
      +          },
      +          {
      +            "type": "null"
      +          }
      +        ],
      +        "description": "This callset's own filtering allele frequency (GroupMax FAF95, as the record's faf95). Null when gnomAD reports none, as for AC 0 and singleton variants and on exac, and on a gnomad_r4 or gnomad_r3 subset, whose variant record carries the parent release's FAF, not the subset's."
      +      },
      +      "filters": {
      +        "anyOf": [
      +          {
      +            "items": {
      +              "type": "string"
      +            },
      +            "type": "array"
      +          },
      +          {
      +            "type": "null"
      +          }
      +        ],
      +        "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
      +      },
      +      "hemizygote_count": {
      +        "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "homozygote_count": {
      +        "description": "Homozygote count in this callset.",
      +        "type": "number"
      +      }
      +    },
      +    "required": [
      +      "ac",
      +      "an",
      +      "af",
      +      "homozygote_count",
      +      "hemizygote_count",
      +      "filters",
      +      "faf95"
      +    ],
      +    "type": "object"
      +  },
      +  {
      +    "type": "null"
      +  }
      +]
    • addedOutput schema / properties / found / items / properties / faf95
      Added value: +{
      +  "anyOf": [
      +    {
      +      "additionalProperties": false,
      +      "properties": {
      +        "group": {
      +          "description": "Genetic-ancestry group the value comes from (e.g. nfe); null when gnomAD names none.",
      +          "type": [
      +            "string",
      +            "null"
      +          ]
      +        },
      +        "source": {
      +          "description": "The record value comes from: gnomAD's joint data, or that callset.",
      +          "enum": [
      +            "joint",
      +            "exome",
      +            "genome"
      +          ],
      +          "type": "string"
      +        },
      +        "value": {
      +          "description": "The FAF95: the lower bound of the 95% confidence interval of the group's allele frequency.",
      +          "type": "number"
      +        }
      +      },
      +      "required": [
      +        "value",
      +        "group",
      +        "source"
      +      ],
      +      "type": "object"
      +    },
      +    {
      +      "type": "null"
      +    }
      +  ],
      +  "description": "gnomAD's filtering allele frequency (GroupMax FAF95): the lower bound of the 95% confidence interval of a genetic-ancestry group's AF, from the group with the highest bound, over non-bottlenecked groups only — the value to test against a disease threshold such as ACMG/AMP BA1 or BS1, which raw AF is not. Read from gnomAD's joint data wherever it publishes a joint record (gnomad_r4), even when that value is null; elsewhere the higher of the callsets' faf95, which source names. Null when gnomAD reports none, as for AC 0 and singleton variants and on exac, and on a gnomad_r4 or gnomad_r3 subset, whose variant record carries the parent release's FAF (a notice names the parent); gnomad_list_gene_variants' faf95_max carries gnomad_r4_non_ukb's own."
      +}
    • addedOutput schema / properties / found / items / properties / hgvsc
      Added value: +{
      +  "description": "HGVS coding or transcript notation of the consequence (e.g. c.406G>T); null when none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
      +  "type": [
      +    "string",
      +    "null"
      +  ]
      +}
    • addedOutput schema / properties / found / items / properties / hgvsp
      Added value: +{
      +  "description": "HGVS protein notation of the consequence (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
      +  "type": [
      +    "string",
      +    "null"
      +  ]
      +}
    • changedOutput schema / properties / found / items / properties / joint_populations / description
      Previous value: -"Per-ancestry frequency vector of gnomAD's joint exome + genome data, over the same samples as the overall an. Empty on gnomad_r3, gnomad_r2_1, and exac, which publish no joint data."New value: +"Per-ancestry frequency vector of gnomAD's joint exome + genome data, over the same samples as the overall an. Empty on every dataset but gnomad_r4: gnomad_r4_non_ukb and every other subset, gnomad_r3, gnomad_r2_1, and exac publish no joint data."
    • changedOutput schema / properties / found / items / properties / joint_populations / items / properties / id / description
      Previous value: -"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4, oth on gnomad_r3, gnomad_r2_1, and exac."New value: +"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4 and gnomad_r4_non_ukb, oth on every other dataset."
    • addedOutput schema / properties / found / items / properties / lof
      Added value: +{
      +  "description": "LOFTEE's loss-of-function call on the consequence — HC high-confidence, LC low-confidence, or OS other splice; null when it made none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
      +  "type": [
      +    "string",
      +    "null"
      +  ]
      +}
    • addedOutput schema / properties / found / items / properties / lof_curations
      Added value: +{
      +  "description": "gnomAD's manual loss-of-function curations of this variant, which can overturn a LOFTEE call; empty when gnomAD has none.",
      +  "items": {
      +    "additionalProperties": false,
      +    "description": "One of gnomAD's manual loss-of-function curations of the variant.",
      +    "properties": {
      +      "flags": {
      +        "description": "The reasons the curators recorded, as gnomAD writes them (e.g. Weak Exon Conservation); empty when none.",
      +        "items": {
      +          "type": "string"
      +        },
      +        "type": "array"
      +      },
      +      "gene_id": {
      +        "description": "Ensembl gene ID the curation is for.",
      +        "type": "string"
      +      },
      +      "gene_symbol": {
      +        "description": "Its gene symbol; null when gnomAD gives none.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "project": {
      +        "description": "The curation project the verdict comes from (e.g. metabolic_conditions_genes).",
      +        "type": "string"
      +      },
      +      "verdict": {
      +        "description": "The curators’ verdict (e.g. LoF, Likely LoF, Not LoF).",
      +        "type": "string"
      +      }
      +    },
      +    "required": [
      +      "gene_id",
      +      "gene_symbol",
      +      "verdict",
      +      "flags",
      +      "project"
      +    ],
      +    "type": "object"
      +  },
      +  "type": "array"
      +}
    • addedOutput schema / properties / found / items / properties / lof_filter
      Added value: +{
      +  "description": "The LOFTEE filter that made that call low-confidence (e.g. END_TRUNC); null when none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
      +  "type": [
      +    "string",
      +    "null"
      +  ]
      +}
    • addedOutput schema / properties / found / items / properties / lof_flags
      Added value: +{
      +  "description": "LOFTEE's flags on that call, as gnomAD writes them (e.g. PHYLOCSF_WEAK); null when none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
      +  "type": [
      +    "string",
      +    "null"
      +  ]
      +}
    • changedOutput schema / properties / found / items / properties / populations / items / properties / id / description
      Previous value: -"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4, oth on gnomad_r3, gnomad_r2_1, and exac."New value: +"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4 and gnomad_r4_non_ukb, oth on every other dataset."
    • changedOutput schema / properties / found / items / properties / primary_transcript / anyOf
      Previous value: -[
      -  {
      -    "additionalProperties": false,
      -    "description": "The variant's consequence on its gene's primary transcript.",
      -    "properties": {
      -      "consequence": {
      -        "description": "Most severe VEP consequence term on this transcript; null when none.",
      -        "type": [
      -          "string",
      -          "null"
      -        ]
      -      },
      -      "hgvsc": {
      -        "description": "HGVS coding or transcript notation on this transcript (e.g. c.*9G>T); null when none.",
      -        "type": [
      -          "string",
      -          "null"
      -        ]
      -      },
      -      "hgvsp": {
      -        "description": "HGVS protein notation on this transcript (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change.",
      -        "type": [
      -          "string",
      -          "null"
      -        ]
      -      },
      -      "is_mane_select": {
      -        "description": "True when this is the gene's MANE Select transcript. For the canonical entry standing in: null where gnomAD reports no MANE status — a gene without a MANE Select (such as a lncRNA) on any dataset, and every gene on gnomad_r2_1 and exac (GRCh37) — else false.",
      -        "type": [
      -          "boolean",
      -          "null"
      -        ]
      -      },
      -      "lof": {
      -        "description": "LOFTEE's loss-of-function call on this transcript (e.g. HC high-confidence, LC low-confidence); null when it made none.",
      -        "type": [
      -          "string",
      -          "null"
      -        ]
      -      },
      -      "transcript_id": {
      -        "description": "Ensembl transcript ID (unversioned).",
      -        "type": "string"
      -      }
      -    },
      -    "required": [
      -      "transcript_id",
      -      "is_mane_select",
      -      "consequence",
      -      "hgvsc",
      -      "hgvsp",
      -      "lof"
      -    ],
      -    "type": "object"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]New value: +[
      +  {
      +    "additionalProperties": false,
      +    "description": "The variant's consequence on its gene's primary transcript.",
      +    "properties": {
      +      "consequence": {
      +        "description": "Most severe VEP consequence term on this transcript; null when none.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "hgvsc": {
      +        "description": "HGVS coding or transcript notation on this transcript (e.g. c.*9G>T); null when none.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "hgvsp": {
      +        "description": "HGVS protein notation on this transcript (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "is_mane_select": {
      +        "description": "True when this is the gene's MANE Select transcript. For the canonical entry standing in: null where gnomAD reports no MANE status — a gene without a MANE Select (such as a lncRNA) on any dataset, and every gene on a GRCh37 dataset (gnomad_r2_1, its subsets, and exac) — else false.",
      +        "type": [
      +          "boolean",
      +          "null"
      +        ]
      +      },
      +      "lof": {
      +        "description": "LOFTEE's loss-of-function call on this transcript (e.g. HC high-confidence, LC low-confidence); null when it made none.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "lof_filter": {
      +        "description": "The LOFTEE filter that made the call on this transcript low-confidence (e.g. END_TRUNC); null when none.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "lof_flags": {
      +        "description": "LOFTEE's flags on the call on this transcript, as gnomAD writes them (e.g. PHYLOCSF_WEAK); null when none.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "transcript_id": {
      +        "description": "Ensembl transcript ID (unversioned).",
      +        "type": "string"
      +      }
      +    },
      +    "required": [
      +      "transcript_id",
      +      "is_mane_select",
      +      "consequence",
      +      "hgvsc",
      +      "hgvsp",
      +      "lof",
      +      "lof_filter",
      +      "lof_flags"
      +    ],
      +    "type": "object"
      +  },
      +  {
      +    "type": "null"
      +  }
      +]
    • changedOutput schema / properties / found / items / required
      Previous value: -[
      -  "variant_id",
      -  "rsids",
      -  "reference_genome",
      -  "dataset",
      -  "ac",
      -  "an",
      -  "af",
      -  "homozygote_count",
      -  "hemizygote_count",
      -  "populations",
      -  "joint_populations",
      -  "callsets",
      -  "source",
      -  "flags",
      -  "qc_status",
      -  "consequence",
      -  "transcript_id",
      -  "primary_transcript",
      -  "gene_symbol",
      -  "in_silico",
      -  "clinvar",
      -  "clinvar_unavailable"
      -]New value: +[
      +  "variant_id",
      +  "rsids",
      +  "reference_genome",
      +  "dataset",
      +  "ac",
      +  "an",
      +  "af",
      +  "homozygote_count",
      +  "hemizygote_count",
      +  "faf95",
      +  "populations",
      +  "joint_populations",
      +  "callsets",
      +  "source",
      +  "flags",
      +  "qc_status",
      +  "consequence",
      +  "transcript_id",
      +  "hgvsc",
      +  "hgvsp",
      +  "lof",
      +  "lof_filter",
      +  "lof_flags",
      +  "primary_transcript",
      +  "gene_symbol",
      +  "lof_curations",
      +  "in_silico",
      +  "clinvar",
      +  "clinvar_unavailable"
      +]
    • changedOutput schema / properties / notice / description
      Previous value: -"Non-fatal notice when optional ClinVar annotation was unavailable."New value: +"Non-fatal notice when optional ClinVar annotation was unavailable, and when the dataset is a gnomad_r4 or gnomad_r3 subset, whose records carry no filtering allele frequency of their own (it names the parent release)."
  2. Changed5 schema fields changed
    • changedOutput schema / properties / error / properties / data / properties / reason / description
      Previous value: -"Machine-readable failure mode. Declared by this tool: `incoherent_build`: reference_genome was supplied but does not match the dataset. `invalid_variant_id`: A variant ID is outside the chrom-pos-ref-alt or rsID grammar; reported per item in failed[]. `variant_not_found`: A well-formed ID is absent from the requested dataset; reported per item in failed[]. `mitochondrial_unsupported`: A variant ID names the mitochondrial chromosome (M, MT, or chrM); reported per item in failed[]. `ambiguous_rsid`: An rsID maps to more than one variant in the dataset; reported per item in failed[]. `graphql_error`: gnomAD rejected the lookup for one ID with a GraphQL error; reported per item in failed[]. `upstream_build_mismatch`: gnomAD answered one ID with a variant on a different reference build; reported per item in failed[]. `upstream_unavailable`: gnomAD stayed unavailable or throttled through every retry for one ID; reported per item in failed[]. `upstream_timeout`: gnomAD attempts timed out or the shared 45 s batch budget expired for one ID; reported per item in failed[]. `upstream_access`: gnomAD refused the request for one ID (access denied); reported per item in failed[]. `invalid_upstream_response`: gnomAD kept answering one ID with a response that failed validation; reported per item in failed[]. Other values are possible when a failure originates below the handler."New value: +"Machine-readable failure mode. Declared by this tool: `incoherent_build`: reference_genome was supplied but does not match the dataset. `invalid_variant_id`: A variant ID is outside the chrom-pos-ref-alt or rsID grammar; reported per item in failed[]. `variant_not_found`: A well-formed ID is absent from the requested dataset with no liftover candidate from the other build: rsIDs are never lifted, and a liftover lookup that fails or runs out of time leaves this reason. Reported per item in failed[]. `variant_not_found_other_build`: A coordinate ID is absent from the requested dataset and, read as an ID on the other reference build, lifts over to the IDs in candidates on the dataset's build; reported per item in failed[]. `mitochondrial_unsupported`: A variant ID names the mitochondrial chromosome (M, MT, or chrM); reported per item in failed[]. `ambiguous_rsid`: An rsID maps to more than one variant in the dataset; reported per item in failed[]. `graphql_error`: gnomAD rejected the lookup for one ID with a GraphQL error; reported per item in failed[]. `upstream_build_mismatch`: gnomAD answered one ID with a variant on a different reference build; reported per item in failed[]. `upstream_unavailable`: gnomAD stayed unavailable or throttled through every retry for one ID; reported per item in failed[]. `upstream_timeout`: gnomAD attempts timed out or the shared 45 s batch budget expired for one ID; reported per item in failed[]. `upstream_access`: gnomAD refused the request for one ID (access denied); reported per item in failed[]. `invalid_upstream_response`: gnomAD kept answering one ID with a response that failed validation; reported per item in failed[]. Other values are possible when a failure originates below the handler."
    • changedOutput schema / properties / error / properties / data / properties / reason / examples
      Previous value: -[
      -  "incoherent_build",
      -  "invalid_variant_id",
      -  "variant_not_found",
      -  "mitochondrial_unsupported",
      -  "ambiguous_rsid",
      -  "graphql_error",
      -  "upstream_build_mismatch",
      -  "upstream_unavailable",
      -  "upstream_timeout",
      -  "upstream_access",
      -  "invalid_upstream_response"
      -]New value: +[
      +  "incoherent_build",
      +  "invalid_variant_id",
      +  "variant_not_found",
      +  "variant_not_found_other_build",
      +  "mitochondrial_unsupported",
      +  "ambiguous_rsid",
      +  "graphql_error",
      +  "upstream_build_mismatch",
      +  "upstream_unavailable",
      +  "upstream_timeout",
      +  "upstream_access",
      +  "invalid_upstream_response"
      +]
    • changedOutput schema / properties / failed / items / properties / candidates / description
      Previous value: -"Concrete variant IDs to retry when an rsID is ambiguous."New value: +"Concrete variant IDs to retry: for ambiguous_rsid, the chrom-pos-ref-alt IDs the rsID maps to; for variant_not_found_other_build, the IDs this string lifts over to on the dataset's reference build when read as an ID on the other build."
    • changedOutput schema / properties / failed / items / properties / reason / enum
      Previous value: -[
      -  "invalid_variant_id",
      -  "variant_not_found",
      -  "mitochondrial_unsupported",
      -  "ambiguous_rsid",
      -  "graphql_error",
      -  "upstream_build_mismatch",
      -  "upstream_unavailable",
      -  "upstream_timeout",
      -  "upstream_access",
      -  "invalid_upstream_response"
      -]New value: +[
      +  "invalid_variant_id",
      +  "variant_not_found",
      +  "variant_not_found_other_build",
      +  "mitochondrial_unsupported",
      +  "ambiguous_rsid",
      +  "graphql_error",
      +  "upstream_build_mismatch",
      +  "upstream_unavailable",
      +  "upstream_timeout",
      +  "upstream_access",
      +  "invalid_upstream_response"
      +]
    • changedOutput schema / properties / found / items / properties / an / description
      Previous value: -"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on gnomad_r3, gnomad_r2_1, and exac (no joint data), the sum across carried callset(s)."New value: +"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on gnomad_r3, gnomad_r2_1, and exac (no joint data), the sum across carried callset(s), a callset that failed QC included — callsets carries each one's own AN and filters."
  3. Changed15 schema fields changed
    • changedOutput schema / properties / found / items / properties / ac / description
      Previous value: -"Overall allele count across carried callset(s)."New value: +"Overall allele count — gnomAD's joint exome + genome count on gnomad_r4, the sum across carried callset(s) on datasets without joint data."
    • changedOutput schema / properties / found / items / properties / af / description
      Previous value: -"Overall allele frequency; null when an is 0."New value: +"Overall allele frequency, ac/an from the same source; null when an is 0."
    • changedOutput schema / properties / found / items / properties / an / description
      Previous value: -"Overall allele number across carried callset(s)."New value: +"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on gnomad_r3, gnomad_r2_1, and exac (no joint data), the sum across carried callset(s)."
    • addedOutput schema / properties / found / items / properties / callsets
      Added value: +{
      +  "additionalProperties": false,
      +  "description": "Each callset's own AC/AN/AF and QC filters, beside the overall counts (which read gnomAD's joint record on gnomad_r4). A variant can fail QC in one callset and pass in the other.",
      +  "properties": {
      +    "exome": {
      +      "anyOf": [
      +        {
      +          "additionalProperties": false,
      +          "properties": {
      +            "ac": {
      +              "description": "Allele count in this callset alone.",
      +              "type": "number"
      +            },
      +            "af": {
      +              "description": "This callset's allele frequency, ac/an; null when an is 0.",
      +              "type": [
      +                "number",
      +                "null"
      +              ]
      +            },
      +            "an": {
      +              "description": "Allele number in this callset alone.",
      +              "type": "number"
      +            },
      +            "filters": {
      +              "anyOf": [
      +                {
      +                  "items": {
      +                    "type": "string"
      +                  },
      +                  "type": "array"
      +                },
      +                {
      +                  "type": "null"
      +                }
      +              ],
      +              "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
      +            },
      +            "hemizygote_count": {
      +              "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
      +              "type": [
      +                "number",
      +                "null"
      +              ]
      +            },
      +            "homozygote_count": {
      +              "description": "Homozygote count in this callset.",
      +              "type": "number"
      +            }
      +          },
      +          "required": [
      +            "ac",
      +            "an",
      +            "af",
      +            "homozygote_count",
      +            "hemizygote_count",
      +            "filters"
      +          ],
      +          "type": "object"
      +        },
      +        {
      +          "type": "null"
      +        }
      +      ],
      +      "description": "One callset's own counts and QC filters; null when that callset does not carry the variant (absent from source)."
      +    },
      +    "genome": {
      +      "anyOf": [
      +        {
      +          "additionalProperties": false,
      +          "properties": {
      +            "ac": {
      +              "description": "Allele count in this callset alone.",
      +              "type": "number"
      +            },
      +            "af": {
      +              "description": "This callset's allele frequency, ac/an; null when an is 0.",
      +              "type": [
      +                "number",
      +                "null"
      +              ]
      +            },
      +            "an": {
      +              "description": "Allele number in this callset alone.",
      +              "type": "number"
      +            },
      +            "filters": {
      +              "anyOf": [
      +                {
      +                  "items": {
      +                    "type": "string"
      +                  },
      +                  "type": "array"
      +                },
      +                {
      +                  "type": "null"
      +                }
      +              ],
      +              "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
      +            },
      +            "hemizygote_count": {
      +              "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
      +              "type": [
      +                "number",
      +                "null"
      +              ]
      +            },
      +            "homozygote_count": {
      +              "description": "Homozygote count in this callset.",
      +              "type": "number"
      +            }
      +          },
      +          "required": [
      +            "ac",
      +            "an",
      +            "af",
      +            "homozygote_count",
      +            "hemizygote_count",
      +            "filters"
      +          ],
      +          "type": "object"
      +        },
      +        {
      +          "type": "null"
      +        }
      +      ],
      +      "description": "One callset's own counts and QC filters; null when that callset does not carry the variant (absent from source)."
      +    }
      +  },
      +  "required": [
      +    "exome",
      +    "genome"
      +  ],
      +  "type": "object"
      +}
    • changedOutput schema / properties / found / items / properties / consequence / description
      Previous value: -"Worst/transcript VEP consequence term; null when none."New value: +"The most severe VEP consequence term across the variant's transcripts, as gnomAD reports it; it can sit on a non-primary isoform, so read it beside primary_transcript. Null when none."
    • changedOutput schema / properties / found / items / properties / hemizygote_count / description
      Previous value: -"Overall hemizygote count (X/Y only); null otherwise."New value: +"Overall hemizygote count, from the same source as ac and an (0 off X/Y); null when gnomAD reports none."
    • changedOutput schema / properties / found / items / properties / homozygote_count / description
      Previous value: -"Overall homozygote count."New value: +"Overall homozygote count, from the same source as ac and an."
    • addedOutput schema / properties / found / items / properties / joint_populations
      Added value: +{
      +  "description": "Per-ancestry frequency vector of gnomAD's joint exome + genome data, over the same samples as the overall an. Empty on gnomad_r3, gnomad_r2_1, and exac, which publish no joint data.",
      +  "items": {
      +    "additionalProperties": false,
      +    "description": "One genetic-ancestry group's AC/AN/AF in gnomAD's joint exome + genome data.",
      +    "properties": {
      +      "ac": {
      +        "description": "Allele count in this group.",
      +        "type": "number"
      +      },
      +      "af": {
      +        "description": "Allele frequency (ac/an); null when an is 0.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "an": {
      +        "description": "Allele number (called chromosomes) in this group.",
      +        "type": "number"
      +      },
      +      "hemizygote_count": {
      +        "description": "Hemizygote count in this group (0 off X/Y); null when gnomAD reports none.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "homozygote_count": {
      +        "description": "Homozygote count in this group.",
      +        "type": "number"
      +      },
      +      "id": {
      +        "description": "Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4, oth on gnomad_r3, gnomad_r2_1, and exac.",
      +        "type": "string"
      +      }
      +    },
      +    "required": [
      +      "id",
      +      "ac",
      +      "an",
      +      "af",
      +      "homozygote_count",
      +      "hemizygote_count"
      +    ],
      +    "type": "object"
      +  },
      +  "type": "array"
      +}
    • changedOutput schema / properties / found / items / properties / populations / description
      Previous value: -"Per-ancestry frequency vector — never collapsed to a single global AF."New value: +"Per-ancestry frequency vector of each carrying callset — never collapsed to a single global AF."
    • changedOutput schema / properties / found / items / properties / populations / items / properties / hemizygote_count / description
      Previous value: -"Hemizygote count (X/Y only); null otherwise."New value: +"Hemizygote count in this group (0 off X/Y); null when gnomAD reports none."
    • changedOutput schema / properties / found / items / properties / populations / items / properties / id / description
      Previous value: -"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, remaining, or ami (genomes only)."New value: +"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4, oth on gnomad_r3, gnomad_r2_1, and exac."
    • addedOutput schema / properties / found / items / properties / primary_transcript
      Added value: +{
      +  "anyOf": [
      +    {
      +      "additionalProperties": false,
      +      "description": "The variant's consequence on its gene's primary transcript.",
      +      "properties": {
      +        "consequence": {
      +          "description": "Most severe VEP consequence term on this transcript; null when none.",
      +          "type": [
      +            "string",
      +            "null"
      +          ]
      +        },
      +        "hgvsc": {
      +          "description": "HGVS coding or transcript notation on this transcript (e.g. c.*9G>T); null when none.",
      +          "type": [
      +            "string",
      +            "null"
      +          ]
      +        },
      +        "hgvsp": {
      +          "description": "HGVS protein notation on this transcript (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change.",
      +          "type": [
      +            "string",
      +            "null"
      +          ]
      +        },
      +        "is_mane_select": {
      +          "description": "True when this is the gene's MANE Select transcript. For the canonical entry standing in: null where gnomAD reports no MANE status — a gene without a MANE Select (such as a lncRNA) on any dataset, and every gene on gnomad_r2_1 and exac (GRCh37) — else false.",
      +          "type": [
      +            "boolean",
      +            "null"
      +          ]
      +        },
      +        "lof": {
      +          "description": "LOFTEE's loss-of-function call on this transcript (e.g. HC high-confidence, LC low-confidence); null when it made none.",
      +          "type": [
      +            "string",
      +            "null"
      +          ]
      +        },
      +        "transcript_id": {
      +          "description": "Ensembl transcript ID (unversioned).",
      +          "type": "string"
      +        }
      +      },
      +      "required": [
      +        "transcript_id",
      +        "is_mane_select",
      +        "consequence",
      +        "hgvsc",
      +        "hgvsp",
      +        "lof"
      +      ],
      +      "type": "object"
      +    },
      +    {
      +      "type": "null"
      +    }
      +  ],
      +  "description": "The consequence on the primary transcript of the consequence's gene: its MANE Select entry, else its canonical entry, from the transcript consequences gnomAD returns. Null when gnomAD lists neither entry for that gene — the variant lies outside both transcripts, e.g. on an exon only minor isoforms carry (CDKN2A's p14ARF exon 1β) — or when the variant has no transcript consequence."
      +}
    • addedOutput schema / properties / found / items / properties / qc_status
      Added value: +{
      +  "description": "gnomAD's QC verdict, by its browser's rule: pass when at least one callset carrying the variant passed QC (empty filters); filtered when none did — gnomAD's browser hides these by default.",
      +  "enum": [
      +    "pass",
      +    "filtered"
      +  ],
      +  "type": "string"
      +}
    • changedOutput schema / properties / found / items / properties / transcript_id / description
      Previous value: -"Transcript the consequence is on; null when none."New value: +"Ensembl transcript ID (unversioned) the consequence is on — not necessarily the gene's MANE Select or canonical transcript; null when none."
    • changedOutput schema / properties / found / items / required
      Previous value: -[
      -  "variant_id",
      -  "rsids",
      -  "reference_genome",
      -  "dataset",
      -  "ac",
      -  "an",
      -  "af",
      -  "homozygote_count",
      -  "hemizygote_count",
      -  "populations",
      -  "source",
      -  "flags",
      -  "consequence",
      -  "transcript_id",
      -  "gene_symbol",
      -  "in_silico",
      -  "clinvar",
      -  "clinvar_unavailable"
      -]New value: +[
      +  "variant_id",
      +  "rsids",
      +  "reference_genome",
      +  "dataset",
      +  "ac",
      +  "an",
      +  "af",
      +  "homozygote_count",
      +  "hemizygote_count",
      +  "populations",
      +  "joint_populations",
      +  "callsets",
      +  "source",
      +  "flags",
      +  "qc_status",
      +  "consequence",
      +  "transcript_id",
      +  "primary_transcript",
      +  "gene_symbol",
      +  "in_silico",
      +  "clinvar",
      +  "clinvar_unavailable"
      +]
  4. Changed1 schema field changed
    • changedOutput schema / properties / error / properties / data / properties / reason / description
      Previous value: -"Machine-readable failure mode. Declared by this tool: `incoherent_build`: reference_genome was supplied but does not match the dataset. `invalid_variant_id`: A variant ID is outside the chrom-pos-ref-alt or rsID grammar; reported per item in failed[]. `variant_not_found`: A well-formed ID is absent from the requested dataset; reported per item in failed[]. `mitochondrial_unsupported`: A variant ID names the mitochondrial chromosome (M, MT, or chrM); reported per item in failed[]. `ambiguous_rsid`: An rsID maps to more than one variant in the dataset; reported per item in failed[]. `graphql_error`: gnomAD rejected the lookup for one ID with a GraphQL error; reported per item in failed[]. `upstream_build_mismatch`: gnomAD answered one ID with a variant on a different reference build; reported per item in failed[]. `upstream_unavailable`: gnomAD stayed unavailable or throttled through every retry for one ID; reported per item in failed[]. `upstream_timeout`: Every attempt to reach gnomAD for one ID timed out; reported per item in failed[]. `upstream_access`: gnomAD refused the request for one ID (access denied); reported per item in failed[]. `invalid_upstream_response`: gnomAD kept answering one ID with a response that failed validation; reported per item in failed[]. Other values are possible when a failure originates below the handler."New value: +"Machine-readable failure mode. Declared by this tool: `incoherent_build`: reference_genome was supplied but does not match the dataset. `invalid_variant_id`: A variant ID is outside the chrom-pos-ref-alt or rsID grammar; reported per item in failed[]. `variant_not_found`: A well-formed ID is absent from the requested dataset; reported per item in failed[]. `mitochondrial_unsupported`: A variant ID names the mitochondrial chromosome (M, MT, or chrM); reported per item in failed[]. `ambiguous_rsid`: An rsID maps to more than one variant in the dataset; reported per item in failed[]. `graphql_error`: gnomAD rejected the lookup for one ID with a GraphQL error; reported per item in failed[]. `upstream_build_mismatch`: gnomAD answered one ID with a variant on a different reference build; reported per item in failed[]. `upstream_unavailable`: gnomAD stayed unavailable or throttled through every retry for one ID; reported per item in failed[]. `upstream_timeout`: gnomAD attempts timed out or the shared 45 s batch budget expired for one ID; reported per item in failed[]. `upstream_access`: gnomAD refused the request for one ID (access denied); reported per item in failed[]. `invalid_upstream_response`: gnomAD kept answering one ID with a response that failed validation; reported per item in failed[]. Other values are possible when a failure originates below the handler."
  5. Changed1 schema field changed
    • changedOutput schema / properties / found / items / properties / clinvar_unavailable / description
      Previous value: -"True when the optional ClinVar resolver failed; false when no entry exists."New value: +"True when the ClinVar lookup failed or ran out of its time budget, so clinvar is null for want of an answer; false when it succeeded, with or without an entry."
  6. Changed13 schema fields changed
    • changedInput schema / properties / variants / items / description
      Previous value: -"Variant ID — chrom-pos-ref-alt (1-based, e.g. 1-55051215-G-GA) or an rsID (rs11591147). Obtain a variantId from ensembl_predict_variant or a VCF. Malformed IDs are reported per-item in failed[], not rejected wholesale."New value: +"Variant ID — chrom-pos-ref-alt (1-based, e.g. 1-55051215-G-GA) on chromosome 1–22, X, or Y with an optional chr prefix, or an rsID (rs11591147). Mitochondrial IDs (M, MT, chrM) are not served. Obtain a variantId from ensembl_predict_variant or a VCF. Malformed IDs are reported per-item in failed[], not rejected wholesale."
    • changedOutput schema / properties / error / properties / data / properties / reason / description
      Previous value: -"Machine-readable failure mode. Declared by this tool: `incoherent_build`: reference_genome was supplied but does not match the dataset. Other values are possible when a failure originates below the handler."New value: +"Machine-readable failure mode. Declared by this tool: `incoherent_build`: reference_genome was supplied but does not match the dataset. `invalid_variant_id`: A variant ID is outside the chrom-pos-ref-alt or rsID grammar; reported per item in failed[]. `variant_not_found`: A well-formed ID is absent from the requested dataset; reported per item in failed[]. `mitochondrial_unsupported`: A variant ID names the mitochondrial chromosome (M, MT, or chrM); reported per item in failed[]. `ambiguous_rsid`: An rsID maps to more than one variant in the dataset; reported per item in failed[]. `graphql_error`: gnomAD rejected the lookup for one ID with a GraphQL error; reported per item in failed[]. `upstream_build_mismatch`: gnomAD answered one ID with a variant on a different reference build; reported per item in failed[]. `upstream_unavailable`: gnomAD stayed unavailable or throttled through every retry for one ID; reported per item in failed[]. `upstream_timeout`: Every attempt to reach gnomAD for one ID timed out; reported per item in failed[]. `upstream_access`: gnomAD refused the request for one ID (access denied); reported per item in failed[]. `invalid_upstream_response`: gnomAD kept answering one ID with a response that failed validation; reported per item in failed[]. Other values are possible when a failure originates below the handler."
    • changedOutput schema / properties / error / properties / data / properties / reason / examples
      Previous value: -[
      -  "incoherent_build"
      -]New value: +[
      +  "incoherent_build",
      +  "invalid_variant_id",
      +  "variant_not_found",
      +  "mitochondrial_unsupported",
      +  "ambiguous_rsid",
      +  "graphql_error",
      +  "upstream_build_mismatch",
      +  "upstream_unavailable",
      +  "upstream_timeout",
      +  "upstream_access",
      +  "invalid_upstream_response"
      +]
    • changedOutput schema / properties / failed / description
      Previous value: -"Per-item failures: malformed IDs, variants absent from the dataset, or upstream errors."New value: +"Per-item failures, in input order: malformed IDs, variants absent from the dataset, or upstream errors — each with its reason and recovery hint."
    • changedOutput schema / properties / failed / items / description
      Previous value: -"One failed input ID and why it failed."New value: +"One failed input ID, why it failed, and what to do next."
    • changedOutput schema / properties / failed / items / properties / error / description
      Previous value: -"What went wrong and how to resolve it."New value: +"What went wrong for this ID."
    • addedOutput schema / properties / failed / items / properties / reason
      Added value: +{
      +  "description": "Why this ID failed — a reason declared in this tool's error contract. Branch on it rather than on the message.",
      +  "enum": [
      +    "invalid_variant_id",
      +    "variant_not_found",
      +    "mitochondrial_unsupported",
      +    "ambiguous_rsid",
      +    "graphql_error",
      +    "upstream_build_mismatch",
      +    "upstream_unavailable",
      +    "upstream_timeout",
      +    "upstream_access",
      +    "invalid_upstream_response"
      +  ],
      +  "type": "string"
      +}
    • addedOutput schema / properties / failed / items / properties / recovery
      Added value: +{
      +  "description": "The next step for this ID — the recovery hint declared for its reason.",
      +  "type": "string"
      +}
    • changedOutput schema / properties / failed / items / required
      Previous value: -[
      -  "variant",
      -  "error"
      -]New value: +[
      +  "variant",
      +  "error",
      +  "reason",
      +  "recovery"
      +]
    • addedOutput schema / properties / found / items / properties / in_silico / items / properties / annotation
      Added value: +{
      +  "description": "Text gnomAD attaches to the score — on gnomad_r3, the SpliceAI event (e.g. acceptor_gain, no_consequence). Holds the raw text when value is null for lack of a number; null for a plain score.",
      +  "type": [
      +    "string",
      +    "null"
      +  ]
      +}
    • changedOutput schema / properties / found / items / properties / in_silico / items / properties / id / description
      Previous value: -"Predictor name (e.g. revel_max, cadd, spliceai_ds_max)."New value: +"Predictor name. Ids vary by dataset — gnomad_r4: cadd, revel_max, spliceai_ds_max, pangolin_largest_ds, phylop, sift_max, polyphen_max; gnomad_r3: cadd, revel, splice_ai, primate_ai; gnomad_r2_1 and exac carry none."
    • changedOutput schema / properties / found / items / properties / in_silico / items / properties / value / description
      Previous value: -"Predictor score; null when not provided for this variant."New value: +"Predictor score; null when not provided for this variant, or when gnomAD gave text with no number (the text is then in annotation)."
    • changedOutput schema / properties / found / items / properties / in_silico / items / required
      Previous value: -[
      -  "id",
      -  "value"
      -]New value: +[
      +  "id",
      +  "value",
      +  "annotation"
      +]
  7. Changed17 schema fields changed
    • removedOutput schema / properties / found / items / properties / af / anyOf
      Removed value: -[
      -  {
      -    "type": "number"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / af / type
      Added value: +[
      +  "number",
      +  "null"
      +]
    • changedOutput schema / properties / found / items / properties / clinvar / anyOf
      Previous value: -[
      -  {
      -    "additionalProperties": false,
      -    "description": "Joined ClinVar significance from gnomAD. Null when the variant has no ClinVar entry.",
      -    "properties": {
      -      "clinical_significance": {
      -        "anyOf": [
      -          {
      -            "type": "string"
      -          },
      -          {
      -            "type": "null"
      -          }
      -        ],
      -        "description": "ClinVar clinical significance (e.g. Pathogenic, Likely benign); null when no entry."
      -      },
      -      "clinvar_variation_id": {
      -        "anyOf": [
      -          {
      -            "type": "string"
      -          },
      -          {
      -            "type": "null"
      -          }
      -        ],
      -        "description": "ClinVar VariationID."
      -      },
      -      "gold_stars": {
      -        "anyOf": [
      -          {
      -            "type": "number"
      -          },
      -          {
      -            "type": "null"
      -          }
      -        ],
      -        "description": "ClinVar 0–4 star review rating."
      -      },
      -      "review_status": {
      -        "anyOf": [
      -          {
      -            "type": "string"
      -          },
      -          {
      -            "type": "null"
      -          }
      -        ],
      -        "description": "ClinVar review status text."
      -      }
      -    },
      -    "required": [
      -      "clinical_significance",
      -      "review_status",
      -      "gold_stars",
      -      "clinvar_variation_id"
      -    ],
      -    "type": "object"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]New value: +[
      +  {
      +    "additionalProperties": false,
      +    "description": "Joined ClinVar significance from gnomAD. Null when the variant has no ClinVar entry.",
      +    "properties": {
      +      "clinical_significance": {
      +        "description": "ClinVar clinical significance (e.g. Pathogenic, Likely benign); null when no entry.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "clinvar_variation_id": {
      +        "description": "ClinVar VariationID.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      },
      +      "gold_stars": {
      +        "description": "ClinVar 0–4 star review rating.",
      +        "type": [
      +          "number",
      +          "null"
      +        ]
      +      },
      +      "review_status": {
      +        "description": "ClinVar review status text.",
      +        "type": [
      +          "string",
      +          "null"
      +        ]
      +      }
      +    },
      +    "required": [
      +      "clinical_significance",
      +      "review_status",
      +      "gold_stars",
      +      "clinvar_variation_id"
      +    ],
      +    "type": "object"
      +  },
      +  {
      +    "type": "null"
      +  }
      +]
    • removedOutput schema / properties / found / items / properties / consequence / anyOf
      Removed value: -[
      -  {
      -    "type": "string"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / consequence / type
      Added value: +[
      +  "string",
      +  "null"
      +]
    • removedOutput schema / properties / found / items / properties / gene_symbol / anyOf
      Removed value: -[
      -  {
      -    "type": "string"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / gene_symbol / type
      Added value: +[
      +  "string",
      +  "null"
      +]
    • removedOutput schema / properties / found / items / properties / hemizygote_count / anyOf
      Removed value: -[
      -  {
      -    "type": "number"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / hemizygote_count / type
      Added value: +[
      +  "number",
      +  "null"
      +]
    • removedOutput schema / properties / found / items / properties / in_silico / items / properties / value / anyOf
      Removed value: -[
      -  {
      -    "type": "number"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / in_silico / items / properties / value / type
      Added value: +[
      +  "number",
      +  "null"
      +]
    • removedOutput schema / properties / found / items / properties / populations / items / properties / af / anyOf
      Removed value: -[
      -  {
      -    "type": "number"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / populations / items / properties / af / type
      Added value: +[
      +  "number",
      +  "null"
      +]
    • removedOutput schema / properties / found / items / properties / populations / items / properties / hemizygote_count / anyOf
      Removed value: -[
      -  {
      -    "type": "number"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / populations / items / properties / hemizygote_count / type
      Added value: +[
      +  "number",
      +  "null"
      +]
    • removedOutput schema / properties / found / items / properties / transcript_id / anyOf
      Removed value: -[
      -  {
      -    "type": "string"
      -  },
      -  {
      -    "type": "null"
      -  }
      -]
    • addedOutput schema / properties / found / items / properties / transcript_id / type
      Added value: +[
      +  "string",
      +  "null"
      +]
  8. Changed4 schema fields changed
    • addedOutput schema / properties / failed / items / properties / candidates
      Added value: +{
      +  "description": "Concrete variant IDs to retry when an rsID is ambiguous.",
      +  "items": {
      +    "type": "string"
      +  },
      +  "type": "array"
      +}
    • addedOutput schema / properties / found / items / properties / clinvar_unavailable
      Added value: +{
      +  "description": "True when the optional ClinVar resolver failed; false when no entry exists.",
      +  "type": "boolean"
      +}
    • changedOutput schema / properties / found / items / required
      Previous value: -[
      -  "variant_id",
      -  "rsids",
      -  "reference_genome",
      -  "dataset",
      -  "ac",
      -  "an",
      -  "af",
      -  "homozygote_count",
      -  "hemizygote_count",
      -  "populations",
      -  "source",
      -  "flags",
      -  "consequence",
      -  "transcript_id",
      -  "gene_symbol",
      -  "in_silico",
      -  "clinvar"
      -]New value: +[
      +  "variant_id",
      +  "rsids",
      +  "reference_genome",
      +  "dataset",
      +  "ac",
      +  "an",
      +  "af",
      +  "homozygote_count",
      +  "hemizygote_count",
      +  "populations",
      +  "source",
      +  "flags",
      +  "consequence",
      +  "transcript_id",
      +  "gene_symbol",
      +  "in_silico",
      +  "clinvar",
      +  "clinvar_unavailable"
      +]
    • addedOutput schema / properties / notice
      Added value: +{
      +  "description": "Non-fatal notice when optional ClinVar annotation was unavailable.",
      +  "type": "string"
      +}
  9. First observed

TDQS

A4.5/5.0
Behavior5/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

With readOnly/idempotent/openWorld annotations already covering the safety profile, the description goes well past them: per-item partial success with failed[] and recovery hints, the meaning of qc_status=filtered and AC0, and the build-ambiguity trap where a string valid on both builds can silently resolve to a different variant. That is exactly the non-obvious behavior an agent cannot get from structured fields.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness3/5

Is the description appropriately sized, front-loaded, and free of redundancy?

It is front-loaded with the purpose and every clause carries information, but it is a single ~350-word paragraph with no breaks across four distinct topics (payload, QC semantics, batching, build pitfalls). It also enumerates the full return payload despite an output schema existing, and restates the 25-ID cap already in the schema — work the structured fields already do.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness5/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

For a 3-parameter batch lookup with error codes and build subtleties, nothing an agent needs is missing: success shape, failure semantics, partial-success contract, dataset/build coupling, and a pointer to the coverage tool for the one case this tool cannot resolve. Completeness is well matched to the tool's complexity.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters4/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

Schema coverage is 100%, so the baseline is 3, but the description adds meaning the schema lacks: it flags that a coordinate ID carries no build, explains the variant_not_found_other_build path with lifted candidates, and clarifies 1-based/chr-prefix/ranges plus the mitochondrial exclusion in prose. The 25-item batch cap and default dataset are restated from the schema, so it edges rather than leaps past the baseline.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose5/5

Does the description clearly state what the tool does and how it differs from similar tools?

A specific verb+resource ("Fetch the full gnomAD population record for one or more variants") immediately followed by a concrete inventory of what that record contains — allele counts, faf95, homozygote counts, LOFTEE, ClinVar join. It even compresses the intent into "The 'how common, is it benign' answer in one call," which distinguishes it from gene-level siblings like gnomad_get_gene_constraint.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines4/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

Gives real routing guidance: it names gnomad_get_coverage as the companion check before concluding true absence, and warns to keep IDs on the dataset's build. It does not explicitly contrast with gnomad_list_gene_variants or gnomad_dataframe_query, so the agent must infer when a gene-wide listing beats a targeted lookup.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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