Predict how DNA variants affect gene expression, splicing, and regulation
AlphaGenome (DeepMind, 2026) predicts the functional impact of DNA variants on gene regulation. It analyzes how single nucleotide variants and short indels affect gene expression levels, mRNA splicing, chromatin accessibility, and transcription factor binding across multiple tissues. Published in Nature, AlphaGenome achieves state-of-the-art performance on genomic variant effect benchmarks.
/v1/genomics/alphagenomeimport requests
API_KEY = "sk-sci-your-key-here"
url = "https://scirouter.ai/v1/genomics/alphagenome"
response = requests.post(url, json={
"variants": [
{"chromosome": "chr17", "position": 41245466, "ref": "A", "alt": "G", "gene": "BRCA1"},
{"chromosome": "chr7", "position": 140753336, "ref": "A", "alt": "T", "gene": "BRAF"}
],
"genome_build": "GRCh38",
"tissues": ["liver", "brain", "blood"]
}, headers={"Authorization": f"Bearer {API_KEY}"})
result = response.json()["data"]
for v in result["variants"]:
expr = v["predictions"]["expression_effect"]
print(f"{v['variant']['gene']}: {expr['direction']} "
f"(log2FC={expr['log2_fold_change']:.2f}, "
f"confidence={expr['confidence']:.2f})")
print(f" Severity: {v['overall_assessment']['severity']}")Interpreting GWAS hits and non-coding variants
Prioritizing variants for functional validation
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