Upload your VCF file and navigate a structured atlas of gene-level knowledge — constraint metrics, clinical annotations, and disease associations, drawn from open science databases.
No clinical interpretations. No risk scores. Just the science.
Each gene in your VCF gets a structured card aggregating what is publicly known.
gnomAD pLI and LOEUF scores showing how intolerant each gene is to variation at a population level.
REVEL, BayesDel, CADD, AlphaMissense, and SpliceAI scores — multiple calibrated metrics side by side.
Curated clinical assertions and gene-disease validity evidence — from Definitive to Limited, with sources shown.
What the protein does, which pathways it belongs to, and its hypothesised role in cellular biology.
gnomAD allele frequencies across ancestral populations — the most important single filter for contextualising rarity.
Population-level trait associations from the GWAS Catalog.
Upload a VCF file from whole-genome sequencing, exome sequencing, or a genotyping array. GRCh37 and GRCh38 are both supported.
Variants are assigned to genes and filtered to those with non-reference calls. Common variants and synonymous changes are collapsed so the signal isn't buried in noise.
Each affected gene is enriched with annotation from open databases — constraint, function, clinical assertions, and prediction scores. Assembled into a browsable, filterable dashboard.
Browse by gene, filter by consequence type, constraint score, or evidence strength. Follow source links directly to gnomAD, ClinVar, ClinGen, and UniProt for the full record.
Example gene card
"Population statistics are fundamentally unable to predict the outcome for a single individual."
GeneAxis does not calculate personal disease risk. It does not tell you that you are "likely" to develop a condition. No such calculation is scientifically defensible at the individual level, and we will not pretend otherwise.
What we do is surface what is publicly known about the genes in your genome — their biology, their population-level constraints, and the clinical literature built around them. What that means for you is a question for you, your curiosity, and where relevant, a clinician.
GeneAxis is a research tool. It is not diagnostic. It is not medical advice.
All annotation is drawn from open, peer-reviewed databases. No proprietary data, no black-box scoring. Every value shown links back to its primary source.
Create an account, upload your VCF, and start navigating your personal gene atlas.