VEP Web Tool
A web-based tool for researchers and clinicians to predict and annotate the consequences of genomic variants from VCF or variant lists.
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Om dette verktøyet
Conceptually, input variants are aligned to reference transcripts for the selected organism and assembly. The tool computes consequences per transcript using standardized ranking (high/moderate/low/modifier) and can report all transcripts or a user-chosen primary transcript. Outputs are structured for programmatic ingestion and downstream pipelines.
Unique value includes real-time processing in a web environment, scalable handling of large variant sets, and optional integration with extra annotation sources. It reduces manual curation time, supports reproducible analysis, and fits both exploratory research and routine QC in clinical genomics.
Core features include: input in VCF or tab-delimited format; organism/assembly specification; transcript preference; per-variant annotations with gene, transcript, consequence, amino acid change, and HGVS; export options to TSV or JSON; and input/output ready for automated workflows. Typical use cases span variant discovery, annotation pipelines, and diagnostics research.
Hvordan bruke
Step 1: Provide inputs by uploading a VCF or pasting a tab-delimited variant list; select the organism and genome assembly. Step 2: Configure options such as transcript preference (canonical vs all) and optional filters or additional annotation sources. Step 3: Run analysis to generate per-variant annotations. Step 4: Review outputs in the results pane and apply filters for impact, gene, or transcript. Step 5: Export results as TSV or JSON for downstream pipelines.
Frequently Asked Questions
Finn raske svar
What input formats are supported?
Which genome builds are supported?
How are transcripts chosen?
What outputs are provided?
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