Overview
GEBRA is a clinical NGS variant interpretation platform designed to help genetic laboratories and clinical teams analyze, prioritize, interpret, and review genomic variants from rare disease WES and WGS cases.
Built for end-to-end interpretation workflows, GEBRA supports both FASTQ- and VCF-based analysis, enabling laboratories to move from raw sequencing data or existing variant files to structured clinical review. The platform integrates phenotype-driven variant prioritization, ACMG-based interpretation support, CNV/SV review, report preparation, and reanalysis workflows in a single cloud environment.
GEBRA is especially suited for laboratories handling rare disease, inherited disease, pediatric genetics, and unresolved WES/WGS cases. By combining automated prioritization with expert review workflows, GEBRA helps clinical teams reduce manual review burden, standardize interpretation processes, and revisit previously unresolved cases with updated evidence and analysis logic.
For laboratories building or scaling in-house genomic testing capabilities, GEBRA provides a practical interpretation workflow that supports clinical NGS data review without requiring teams to maintain complex bioinformatics infrastructure internally.
Key Features
- Clinical NGS variant interpretation platform for WES and WGS data
- Supports FASTQ- and VCF-based workflows
- Phenotype-driven variant prioritization using HPO-based clinical information
- ACMG-based interpretation support for clinical variant review
- SNV, indel, CNV, and SV review workflows
- Rare disease-focused case analysis and candidate variant prioritization
- Reanalysis workflow for previously unresolved cases
- Cloud-based access for distributed clinical and laboratory teams
- Designed to support scalable interpretation workflows for genetic testing laboratories
Typical Use Cases
- Rare disease WES/WGS interpretation
- Unresolved case reanalysis
- Clinical exome and genome variant review
- In-house NGS interpretation workflow setup
- Variant prioritization for pediatric and inherited disease cases
- Standardized review workflow for clinical genetics teams
Highlights
- End-to-end NGS variant interpretation workflow for rare disease analysis, from sequencing data and variant calls to clinical review and reporting
- Broad variant support across SNV/indel, CNV, structural variants, mobile element insertions, and repeat expansions in one cloud-based platform
- AI-powered prioritization and ACMG-based interpretation support to help clinical teams review candidate variants faster and more consistently
Details
Introducing multi-product solutions
You can now purchase comprehensive solutions tailored to use cases and industries.
Features and programs
Financing for AWS Marketplace purchases
Pricing
Dimension | Description | Cost/unit |
|---|---|---|
Exome_Proband_FASTQ | WES FASTQ Proband | $85.00 |
Exome_Proband_VCF | WES VCF Proband | $70.00 |
Exome_Duo_FASTQ | WES FASTQ Duo | $170.00 |
Exome_Duo_VCF | WES VCF Duo | $105.00 |
Exome_Trio_FASTQ | WES FASTQ Trio | $255.00 |
Exome_Trio_VCF | WES VCF Trio | $140.00 |
Genome_Proband_FASTQ | WGS FASTQ Proband | $205.00 |
Genome_Proband_VCF | WGS VCF Proband | $130.00 |
Genome_Duo_FASTQ | WGS FASTQ Duo | $410.00 |
Genome_Duo_VCF | WGS VCF Duo | $195.00 |
Vendor refund policy
In cases where analysis is not actually performed due to input errors or unmet system processing conditions, automatic billing or test creation failure may still occur. The Company shall provide advance guidance where possible and may manually adjust billing or restore credits upon Customer request if a valid reason is confirmed.
How can we make this page better?
Legal
Vendor terms and conditions
Content disclaimer
Delivery details
Software as a Service (SaaS)
SaaS delivers cloud-based software applications directly to customers over the internet. You can access these applications through a subscription model. You will pay recurring monthly usage fees through your AWS bill, while AWS handles deployment and infrastructure management, ensuring scalability, reliability, and seamless integration with other AWS services.
Resources
Vendor resources
Support
Vendor support
Support Email : gebra@3billion.io Product Page : https://3billion.io/gebra User Manual :
AWS infrastructure support
AWS Support is a one-on-one, fast-response support channel that is staffed 24x7x365 with experienced and technical support engineers. The service helps customers of all sizes and technical abilities to successfully utilize the products and features provided by Amazon Web Services.