goodfire-ai

Look up pathogenicity, mechanistic interpretation, and disruption profiles for specific genetic variants via the EVEE API (Evo 2 genomic foundation model). Use when the user mentions a specific variant by gene name (BRCA1, TP53), rsID (rs1597537935), ClinVar variation ID (655979), HGVS notation (c.1234A>G, p.Arg412Gln), or genomic coordinate (chr17:43044295:A:G) — even if they don't mention "EVEE" or "ClinVar" by name. Trigger on questions about whether a variant is pathogenic, benign, or VUS; why it causes disease; how it compares to related variants; or what its predicted effect on protein/splicing/regulation is. Do NOT trigger on general gene-function questions, gene-expression analysis, CRISPR guide design, or evolutionary biology — this skill is for per-variant effect lookup only.