get_variant_disruptions
Identifies the top biological annotation disruptions for a genetic variant, ranking molecular features by magnitude of change to explain pathogenic or benign effects.
Instructions
Get the top biological annotation disruptions for a variant.
Shows which molecular features are most affected by the variant, ranked by magnitude of change. Each disruption shows what the Evo 2 model predicts for the reference vs. alternate allele across 325 biological annotations spanning protein structure, chromatin state, regulatory elements, splice sites, and more.
This is the key tool for understanding WHY a variant is predicted pathogenic or benign — e.g., a splice-site variant might show large disruptions in splice donor/acceptor annotations, while a missense variant might show disruptions in protein domain and secondary structure annotations.
Categories: amino_acid, atacseq, ccre, chipseq, chromhmm, elm, fstack, protein_feature, interpro, genomic_feature, ptm, region, secondary_structure.
Args: variant_id: Variant identifier in chr:pos:ref:alt format. top_n: Number of top disruptions to return (default 15, max 100). category: Optional category filter — restrict ranking to one category (e.g. to see only splice-related disruptions: category='genomic_feature').
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| variant_id | Yes | ||
| top_n | No | ||
| category | No |