variant_search
Read-only
Find genetic variants using rsID, HGVS notation, or gene and protein changes, with filters for clinical significance, consequence, and allele frequency.
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
TableJSON 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) |