analyze_gwas_locus
Rank variants in a GWAS locus by predicted effect across modalities to prioritize follow-up candidates. Scores SNVs, indels, and multi-nucleotide variants using live AlphaGenome predictions.
Instructions
Rank the variants of a locus by predicted effect (largest absolute quantile across modalities), to prioritize candidates for follow-up. For single-nucleotide variants only, atlas_lookup_variants or atlas_scan_region is faster and adds the AVI score.
Runs live inference (score_variant with the SDK's recommended variant scorers); works for single-nucleotide variants, indels and multi-nucleotide variants. The result states source: live.
Results are AlphaGenome model predictions for research prioritization, not clinical classifications: scores and calibrated quantiles are reported as returned, and no pathogenic/benign call is made.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| end | No | Optional: locus end, for the label | |
| start | No | Optional: locus start, for the label | |
| variants | Yes | Variants to score (1-100) | |
| chromosome | No | Optional: locus chromosome, for the label |