Analyze genetic variants using Ensembl REST API
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| Variant ID | Location | Type | Gene | Clinical Significance | Population MAF | Protein Impact | Publications |
|---|
This tool accepts TSV (tab-separated values) files containing variant IDs. Each variant should be on a separate line, and you can include rs IDs (e.g., rs6025) or specific variant descriptions in standard format (e.g., 1:g.69134A>G).
The clinical significance analysis retrieves data from ClinVar and other clinical databases to indicate whether a variant is classified as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic. It also provides information on associated conditions when available.
Population frequency shows how common a variant is in different populations around the world based on data from gnomAD, 1000 Genomes, and other population databases. This information helps researchers determine if a variant is rare or common, which can be useful in determining its potential impact.
Protein impact is assessed using multiple algorithms including SIFT, PolyPhen, and CADD scores. These algorithms predict whether amino acid changes might affect protein function. The tool aggregates these scores to provide a comprehensive view of potential functional impact.
The batch size determines how many variants are processed at once. Smaller batch sizes provide faster initial results but may take longer overall. Larger batch sizes are more efficient for many variants but require longer processing time before showing any results. Choose based on your dataset size and how quickly you need initial results.