generate_variant_report
Create a detailed predicted molecular effect report for a variant, including AVI score feature attributions, from Atlas or live inference. Research use only.
Instructions
A fuller report of one variant's predicted molecular effects: more rows per scorer than predict_variant_effect and, from the Atlas, the AVI score with its feature attributions (AVI_SCORE_FEATURE_IMPORTANCE). It is a research summary, not a clinical report: it contains no pathogenicity classification and no recommendation.
Source: a single-nucleotide variant is answered from the precomputed AlphaGenome Atlas; an indel or multi-nucleotide variant runs live inference (score_variant). Both return the same scorers in the same shape. Chosen automatically, overridable with source, and always stated in the result.
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: "Generate a report for chr19:44908684 T>C"
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| alt | Yes | Alternate allele (A, C, G, T; more than one base for an indel) | |
| ref | Yes | Reference allele (A, C, G, T; more than one base for an indel) | |
| source | No | Optional: where the answer comes from (default: auto). auto = the precomputed AlphaGenome Atlas for single-nucleotide substitutions, live inference for everything else (indels, multi-nucleotide variants); falls back to live only when the Atlas does not hold the variant. atlas = Atlas only, errors instead of falling back. live = always run the model. The result always states which source answered. | |
| 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) | |
| tissue_type | No | Optional: keep only the tracks of one tissue or cell type. A name (brain, neuron, blood, liver, heart, lung, kidney) or an ontology CURIE (e.g., UBERON:0000955, CL:0000540). Default: all tissues. |