get_variant
Retrieve detailed information on a genetic variant including clinical significance, predictor scores, gene constraint, disease associations, and AI-generated mechanistic interpretation.
Instructions
Get comprehensive information about a specific genetic variant.
Returns clinical significance, model-derived scores from EVEE's heads (aligned to AlphaMissense, CADD, REVEL, SIFT, etc.), reference predictor scores from external databases when present, gene constraint (LOEUF), HGVS notation, disease associations, protein domains, and the AI-generated mechanistic interpretation.
If the stored interpretation isn't ready, this tool hits EVEE's on-demand
/analysis endpoint once: if generation has already completed, the fresh
interpretation is returned inline; otherwise the response carries an
interpretation = {status: queued/processing, detail: ...} entry and you
should call wait_for_variant_analysis to poll until it finishes.
Args: variant_id: Variant identifier in chr:pos:ref:alt format (e.g. "chr17:43092918:G:A" for BRCA1 ClinVar ID 41812). NOTE: EVEE uses 0-based positions; ClinVar/VCF/HGVS are 1-based. Subtract 1 from ClinVar pos for SNVs; for indels the offset varies — prefer search_variants.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| variant_id | Yes |