GEBRA™ is a cloud-based rare disease variant interpretation software designed to help clinical laboratories, hospitals, and genomics teams analyze and review WES/WGS cases more efficiently.
Built by 3billion, a rare disease genetic testing company, GEBRA supports tertiary analysis workflows from genomic data input to candidate variant review. The platform is designed for teams that need to interpret rare disease cases using VCF or FASTQ files while improving review speed, consistency, and diagnostic workflow efficiency.
GEBRA enables users to upload genomic data, review prioritized candidate variants, compare phenotype relevance, evaluate inheritance models, and assess variant-level evidence in a structured interface. The software supports rare disease-focused analysis workflows including SNV/indel review, CNV review, phenotype matching, inheritance-based filtering, ACMG evidence review, and candidate variant prioritization.
For laboratories handling unresolved or previously negative WES/WGS cases, GEBRA can also support reanalysis workflows using existing genomic data. By combining rare disease-optimized prioritization algorithms with a clinical review interface, GEBRA helps teams identify candidate variants that may require further evaluation.
Key capabilities include:
WES/WGS data analysis support
FASTQ and VCF input workflows
Rare disease-focused variant prioritization
HPO phenotype matching
Inheritance model-based review
ACMG evidence review support
SNV/indel, CNV, and other variant review workflows
Candidate gene and variant comparison
Case-level review interface
Reanalysis of unresolved cases
Cloud-based access for distributed clinical and laboratory teams
GEBRA is designed for genetic laboratories, clinical genomics teams, hospitals, academic medical centers, and rare disease programs that need a scalable software solution for genomic interpretation. The platform helps reduce manual review burden, organize variant evidence, and support more efficient collaboration between bioinformatics teams, laboratory directors, and clinical reviewers.
GEBRA can be used as a standalone interpretation platform or as part of a broader rare disease genomic testing workflow. It is especially useful for teams that already generate sequencing data in-house or through external providers and need a reliable software environment for tertiary analysis and case review.
3billion has extensive experience in rare disease genomic analysis and has supported patients and clinical partners across multiple countries. GEBRA reflects this experience by focusing specifically on rare disease interpretation rather than general-purpose variant annotation alone.
GEBRA is intended to support professional genomic interpretation workflows. Final clinical decisions, diagnosis, and reporting should be made by qualified healthcare professionals according to applicable institutional, clinical, and regulatory requirements.
Highlights
3ASC - Deep learning model that prioritizes disease-causing variants using up to 41 genomic features, including patient symptoms, inheritance patterns, allele frequencies, and ACMG criteria. It achieves a 97% top-5 recall rate.
Knowledge Base - Interpretations That Persist, Diagnoses That Compound
Symptom-driven Update : When Phenotypes Evolve, Your Shortlist Should Too
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Pricing is based on the duration and terms of your contract with the vendor, and additional usage. You pay upfront or in installments according to your contract terms with the vendor. This entitles you to a specified quantity of use for the contract duration. Usage-based pricing is in effect for overages or additional usage not covered in the contract. These charges are applied on top of the contract price. If you choose not to renew or replace your contract before the contract end date, access to your entitlements will expire.
Additional AWS infrastructure costs may apply. Use the AWS Pricing Calculator to estimate your infrastructure costs.
You buy GEBRA as a contract with consumption pricing, billing per analysis unit. Four dimensions let you match pricing to your sequencing data type and input format. Two cover whole exome sequencing (WES) analysis, and two cover whole genome sequencing (WGS) analysis, which looks at the entire genome. Within each, you choose a VCF input, which is pre-called variant data, or a FASTQ input, which is raw sequencing reads. You pick the dimensions that fit your workflow, and costs scale with the number of analyses you run.
Top-of-mind questions for buyers
What is the difference between the VCF input and FASTQ input dimensions?
A FASTQ input means you submit raw sequencing reads, so the platform runs variant calling before interpretation. A VCF input means you submit pre-called variant data, skipping that step. Both lead to the same interpretation workflow, but the FASTQ dimensions cover the added processing from raw reads.
How is one analysis unit counted for billing?
Each unit covers the processing of one sample's data through the matching workflow. You pick the dimension that fits that sample's sequencing type and input format. Costs add up by the number of samples you analyze, so running more analyses increases the total under consumption pricing.
Which dimension drives my cost if I run both exome and genome analyses?
Each analysis bills independently against the dimension that matches its sequencing type and input format. WES and WGS runs do not combine into one charge. Your total is the sum of all analyses across the four dimensions, so the mix of sequencing types and input formats you run shapes the bill.
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GEBRA is a cloud-based NGS variant interpretation platform for clinical WES/WGS analysis, rare disease case review, variant prioritization, ACMG-based interpretation, CNV/SV review, and reanalysis workflows.
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