variant_search
Read-only
Search genetic variants by rsID, HGVS, gene, or consequence with filters for clinical significance, allele frequency, and CADD score. Use structured parameters for accurate results.
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 |
|---|---|---|---|
| query | No | Variant query (rsid or HGVS notation). Avoid compound queries like "BRAF V600E" — use gene + hgvsp parameters instead. | |
| gene | No | Filter by gene symbol (e.g., "BRAF"). Use together with hgvsp for protein change queries. | |
| significance | No | ||
| max_frequency | No | Maximum allele frequency (0-1) | |
| min_cadd | No | Minimum CADD score | |
| consequence | No | Variant consequence (e.g., missense, synonymous) | |
| rsid | No | dbSNP rsID | |
| hgvsp | No | Protein change (e.g., V600E). Use with gene parameter for compound queries. | |
| hgvsc | No | cDNA change | |
| limit | No | Maximum results | |
| offset | No | Result offset |