Variant
variantGet the full merged annotation for a single human genetic variant by its HGVS id (e.g. "chr7:g.140453136A>T"). Returns annotations aggregated from dbSNP, ClinVar (pathogenicity / clinical significance), CADD and dbNSFP (deleteriousness/conservation scores), and gnomAD (population allele frequencies). Use to look up a known variant and read its pathogenicity and population frequency.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| id | Yes | An HGVS variant id, e.g. "chr7:g.140453136A>T". | |
| fields | No | Comma-separated return fields (default: all). e.g. "clinvar,gnomad_genome.af,cadd.phred". |