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

The VEP Web Tool provides automated annotation and predicted consequences for genomic variants described in VCFs or variant lists. It supports batch analysis and returns per-variant data including gene, transcript, the predicted consequence, amino acid changes, and HGVS notation. The tool is intended for researchers, clinicians, and bioinformaticians who need rapid annotation without local software installation.

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.

How to use vep web tool

Frequently Asked Questions

Finn raske svar

What input formats are supported?
The tool accepts VCF files or tab-delimited variant lists. Variants must reference the chosen assembly. Large inputs are processed in chunks to maintain performance, and a simple header is supported for tab-delimited imports.
Which genome builds are supported?
Supported builds include GRCh37 and GRCh38. If your data uses a different build, perform a pre-step liftover or select the closest supported assembly; the tool relies on canonical references for annotation.
How are transcripts chosen?
You can annotate using the canonical transcript per gene or request annotation for all transcripts. When multiple transcripts exist, the tool can report all or the user-selected primary transcript to balance breadth and specificity.
What outputs are provided?
For each variant, you receive gene, transcript, predicted consequence, HGVS notation, amino acid changes, and a predicted impact. Outputs can be exported as TSV or JSON, enabling integration into automated workflows.

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