Variant Annotator
variant_annotateOne-box variant lookup against MyVariant.info: accepts an rsID, chrom:pos:ref:alt, genomic HGVS ("chr17:g.7676154G>C"), or transcript HGVS c. ("NM_000546.6:c.215C>G" / "TP53:c.215C>G", bridged via the hgvs_convert tool). Returns a ClinVar significance summary, gnomAD exome/genome allele frequencies, and CADD/SIFT/PolyPhen2/REVEL pathogenicity predictor scores — each section explicitly null when that source has no data, never silently omitted. See the result's own "caveats" for real data-freshness limits (frozen gnomAD/CADD snapshots, periodic ClinVar snapshot).
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| variant | Yes | An rsID ("rs1042522"), chrom:pos:ref:alt ("17:7676154:G:C", single-base substitutions only), genomic HGVS ("chr17:g.7676154G>C" or "17:g.7676154G>C"), or transcript HGVS c. ("NM_000546.6:c.215C>G" or "TP53:c.215C>G"). | |
| assembly | No | Genome build for rsID/chrom-pos-ref-alt/genomic-HGVS lookups (MyVariant.info's native default is hg19). Ignored for transcript "c." input, which is always bridged via GRCh38/hg38 (hgvs_convert's own coordinate space). | hg19 |