atlas_lookup_variant
Look up precomputed AlphaGenome scores for one single-nucleotide variant (hg38) without a model call, returning top-ranked tracks, quantiles, gene, tissue, and assay.
Instructions
Look up the precomputed AlphaGenome scores of one single-nucleotide variant. No model call, so it answers in seconds.
Returns, per scorer, the strongest tracks for the variant ranked by absolute score, each with its calibrated quantile, gene, tissue or cell type, and assay. Default scorers: AVI_SCORE plus one per modality (RNA_SEQ, CAGE, DNASE, CHIP_HISTONE, CHIP_TF, SPLICE_SITES).
If the reference base does not match hg38, the Atlas says which base it expected and that message is returned as a validation error.
The Atlas holds precomputed AlphaGenome scores for single-nucleotide substitutions on the human reference genome (hg38, chr1-22, chrX, chrY). Indels and multi-nucleotide variants are not in it; use predict_variant_effect for those.
The response is a summary, never a full score matrix: ranked rows only, capped at top_n (default 25, max 100) and at 40,000 characters.
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.
Example: "Look up chr19:44908684 T>C in the AlphaGenome Atlas"
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| alt | Yes | Alternate base (one of A, C, G, T) | |
| ref | Yes | Reference base (one of A, C, G, T). Must match hg38 at this position. | |
| top_n | No | Rows to return (default: 25, max: 100) | |
| scorers | No | Optional: scorer names to use instead of the defaults. Names come from atlas_list_scorers and are the same for both sources, except the AVI scorers, which the Atlas alone serves. | |
| position | Yes | Genomic position (1-based, hg38) | |
| chromosome | Yes | Chromosome (chr1-chr22, chrX, chrY) |