predict_splice_impact
Predict how a DNA variant affects splicing, including splice sites, usage, and junctions, with gene context to prioritize variants for research.
Instructions
Predicted splicing effects of a variant: splice sites, splice site usage and splice junctions, with the gene and junction of each.
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 |
|---|---|---|---|
| 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) | |
| 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. |