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:

• chr6:160585140-T>G
• 22 28695868 AG A
• 7-69599651-A-G
• chrX:153803771:1:A (SPDI variant description, 0 based position)
• rs1228544607
• ENST00000679957.1:c.803C>T
• NM_018136.4:c.567_569del
• NM_000277.2(PAH):c.169G>A (p.Glu57Lys)
• AGT Met259Thr
• AGT M259T
• 1:11796321-G>A
• AUTS2
• mthfr
• 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 do

• 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

1. April 2024

   GnomAD4, CADD 1.7 and Minor Updates

   We have updated our algorithm to use GnomAD v. 4.0 (over 800,000 individuals!) and CADD 1.7 in the score assignment. Give it a try.

2. March 2024

   Exciting News: GeneBe in Clinical Genetics!

   We're thrilled to announce the publication of our latest article, Genebe.net: Implementation and Validation of an Automatic ACMG Variant Pathogenicity Criteria Assignment in Clinical Genetics.

3. February 2024

   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.

4. January 2024

   The Python client becomes open source.

   GeneBe's Python client is now open source. Check it out on GitHub, along with the documentation.

5. November 2023

   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.

6. October 2023

   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.

7. September 2023

   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.