GeneBe: An Advanced Tool for Interpreting Genetic Variants
Explore the world of genetics with GeneBe. Our platform provides access to a vast database of genetic variant annotations that can help you understand the implications of the DNA changes. Check GnomAD frequencies, ClinVar annotations, use our ACMG variant pathogenicity calculator.
Use the search box to find annotations for specific genetic variants or genes. Here are some examples of possible queries you can type in:
- 22 28695868 AG A
- chrX:153803771:1:A (SPDI variant description, 0 based position)
- NM_000277.2(PAH):c.169G>A (p.Glu57Lys)
- AGT Met259Thr
- AGT M259T
- Deletions: 22-28695868-AG-A, 22-28695869-G-
- Insertions: 22-28695868-A-AG, 22-28695869--G
Find out more about GeneBe on our about page.
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Other things that GeneBe can doGeneBe is not only a website or an ACMG score calculator.
- Check our API with a dedicated Python client that can annotate VCF files from the command line and works with Pandas.
- Check our tool for liftover variants between hg19/hg38/t2t in batches.
- And another tool for converting HGVS variant notations to positions in batches.
News & Changelog
New Introduction Article
A short introduction on using the GeneBe REST API via the Python library was published on Medium: Annotating Genetic Variants Made Easy.
The Python client becomes open source.
GnomAD4 and Python Client
We have updated our GnomAD database to use version 4. Although it is not yet utilized in the ACMG algorithm, the data is displayed on the website.
There is a new experimental GeneBe Python Client available on PyPI.
Welcome to new scorers: AlphaMissense and CardioBoost; API is production ready.
The API for annotating variants is ready. It offers speed (processing over 500 variants per second for WGS), completeness (covering ACMG guidelines, frequencies, scores, and consequences), and reliability. Create an account and generate an API key to use API.
Additionally, we have integrated AlphaMissense and CardioBoost scores on the page.
Presentation at PTGC 2023
Presentation 'Genebe.net – automatic implementation of ACMG criteria' delivered at the 11th Congress of the Polish Society of Human Genetics, Bydgoszcz, Poland.