GENOME
VARIATION
ANALYSIS
SNP annotation · CNV dosage prediction · Batch rsID processing · Clinical interpretation. Powered by simulated dbSNP, ClinVar, and Ensembl GRCh38 pipelines. Built for the bench scientist who reads the pipeline source.
Analysis Modules
Choose an analysis type to begin variant interpretation
Single Variant Analysis
Input chromosomal coordinates (Chr, Position, Ref, Alt) for real-time SNP annotation, consequence prediction, and gene mapping.
- Synonymous / Missense / Nonsense classification
- Gene & pathway mapping
- SIFT & PolyPhen-2 predictions
CNV Analysis
Analyse Copy Number Variants — deletions and duplications across genomic regions with dosage effect prediction.
- Duplication / Deletion detection
- Haploinsufficiency prediction
- Region size classification
Batch rsID Analysis
Process multiple rsIDs simultaneously via text input or file upload. Export annotated results as a downloadable CSV report.
- Up to 200 rsIDs per batch
- ClinVar significance lookup
- CSV export
Analysis Pipeline
Inspired by real-world tools: Ensembl VEP · ANNOVAR · ClinVar pipelines
Variant Input
Chromosomal coordinates (Chr:Pos:Ref:Alt) or rsID identifiers
Classification
SNP vs CNV · Transition vs Transversion · Indel detection
Annotation
dbSNP lookup · Gene mapping · HGVS nomenclature
Impact Prediction
Functional consequence · SIFT · PolyPhen-2 · Impact level
Clinical Report
ClinVar significance · Disease association · Interpretation
Try These Variants
Click any rsID to view its full annotation report