gnomad-genetics-mcp-server: get variant
gnomad_get_variantFetch the full gnomAD population record for one or more variants — allele count/number/frequency overall and broken down per genetic-ancestry group, homozygote and hemizygote counts, quality flags, transcript consequence, in-silico predictor scores, and joined ClinVar clinical significance. The "how common, is it benign" answer in one call. 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[] without failing the others. An empty found[] for a well-formed ID 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/
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| dataset | No | gnomAD dataset: gnomad_r4 (GRCh38, default), gnomad_r3 (GRCh38), gnomad_r2_1 (GRCh37), exac (GRCh37). Echoed in output. | |
| variants | Yes | 1–25 variant IDs (chrom-pos-ref-alt or rsID) to look up in one batched call. | |
| reference_genome | No | 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. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| error | No | Present when the call failed. Absent on success. | |
| found | No | Variants resolved to a population record. | |
| failed | No | Per-item failures: malformed IDs, variants absent from the dataset, or upstream errors. | |
| notice | No | Non-fatal notice when optional ClinVar annotation was unavailable. | |
| dataset | No | Effective gnomAD dataset used for the batch. | |
| reference_genome | No | Effective reference build used for the batch. |