variant_search
Search genomic variants by rsID, HGVS, gene, or protein change. Filter results by ClinVar significance, consequence, allele frequency, or CADD score to find relevant variant annotations.
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 | |
| 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 | |
| consequence | No | Variant consequence (e.g., missense, synonymous) | |
| significance | No | ||
| max_frequency | No | Maximum allele frequency (0-1) |