variant_search
Search human genomic variants by rsID, HGVS, gene, protein change, consequence, or ClinVar significance to retrieve matching annotations and clinical classifications.
Instructions
Search for variants. Use structured parameters for best results:
rsid: e.g. query="rs113488022"
HGVS: e.g. query="NM_004333.4:c.1799T>A"
Gene filter: e.g. gene="BRAF" with hgvsp="V600E" or consequence="missense"
ClinVar significance: e.g. significance="pathogenic" Do NOT use compound free-text like "BRAF V600E" — use separate gene and hgvsp parameters instead.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| gene | No | Filter by gene symbol (e.g., "BRAF"). Use together with hgvsp for protein change queries. | |
| rsid | No | dbSNP rsID | |
| hgvsc | No | cDNA change — bare c. notation (e.g., c.1799T>A) or full HGVS (e.g., NM_004333.4:c.1799T>A) | |
| hgvsp | No | Protein change (e.g., V600E). Use with gene parameter for compound queries. | |
| limit | No | Maximum results | |
| query | No | Variant query (rsid or HGVS notation). Avoid compound queries like "BRAF V600E" — use gene + hgvsp parameters instead. | |
| offset | No | Result offset | |
| min_cadd | No | Minimum CADD score; echoed per row as cadd_phred so the filter is verifiable from each result | |
| consequence | No | Variant consequence (e.g., missense, synonymous) | |
| significance | No | ClinVar significance category, matched exactly — records displayed as "Pathogenic/Likely pathogenic" match both pathogenic and likely_pathogenic; "Conflicting interpretations of pathogenicity" matches none of these | |
| max_frequency | No | Maximum allele frequency (0-1) |