predict_variant_effect
Predict the regulatory impact of a genetic variant on gene expression, splicing, chromatin, and transcription factor binding using AlphaGenome model predictions.
Instructions
Predicted regulatory effect of a genetic variant, per modality: the strongest tracks of each scorer (expression, transcription start, chromatin accessibility, histone marks, transcription factor binding, splicing), each with its score, calibrated quantile, gene, tissue or cell type, and assay. From the Atlas the AlphaGenome Variant Impact (AVI) score is included.
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: "Analyze chr19:44908684 T>C with AlphaGenome"
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. | |
| output_types | No | Optional: modalities to report (default: one scorer per modality) |