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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 5-162097839-CG-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162097839&ref=CG&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 162097839,
      "ref": "CG",
      "alt": "C",
      "effect": "frameshift_variant",
      "transcript": "ENST00000639213.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "NM_198904.4",
          "protein_id": "NP_944494.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 757,
          "cdna_end": null,
          "cdna_length": 3813,
          "mane_select": "ENST00000639213.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "ENST00000639213.2",
          "protein_id": "ENSP00000491909.2",
          "transcript_support_level": 1,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 757,
          "cdna_end": null,
          "cdna_length": 3813,
          "mane_select": "NM_198904.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "ENST00000414552.6",
          "protein_id": "ENSP00000410732.2",
          "transcript_support_level": 1,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 755,
          "cdna_end": null,
          "cdna_length": 3927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "ENST00000639111.2",
          "protein_id": "ENSP00000492125.2",
          "transcript_support_level": 1,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": 1065,
          "cdna_end": null,
          "cdna_length": 11548,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "NM_198903.2",
          "protein_id": "NP_944493.2",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": 888,
          "cdna_end": null,
          "cdna_length": 4077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "NM_001375343.1",
          "protein_id": "NP_001362272.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1065,
          "cdna_end": null,
          "cdna_length": 4217,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "ENST00000361925.9",
          "protein_id": "ENSP00000354651.5",
          "transcript_support_level": 3,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 656,
          "cdna_end": null,
          "cdna_length": 3767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "ENST00000641017.1",
          "protein_id": "ENSP00000493461.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": 530,
          "cdna_end": null,
          "cdna_length": 3628,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "NM_001375344.1",
          "protein_id": "NP_001362273.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 530,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": 1065,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.491delG",
          "hgvs_p": "p.Arg164fs",
          "transcript": "ENST00000356592.8",
          "protein_id": "ENSP00000349000.4",
          "transcript_support_level": 5,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 491,
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          "cdna_start": 492,
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          "cdna_length": 3534,
          "mane_select": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "GABRG2",
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          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs",
          "transcript": "NM_001375341.1",
          "protein_id": "NP_001362270.1",
          "transcript_support_level": null,
          "aa_start": 177,
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          "aa_length": 474,
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          "cdna_start": 1065,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "GABRG2",
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          "hgvs_c": "c.521delG",
          "hgvs_p": "p.Arg174fs",
          "transcript": "NM_001375339.1",
          "protein_id": "NP_001362268.1",
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          "gene_symbol": "GABRG2",
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          "protein_id": "NP_000807.2",
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        {
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          "intron_rank": null,
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          "gene_symbol": "GABRG2",
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          "hgvs_p": "p.Arg177fs",
          "transcript": "NM_001375342.1",
          "protein_id": "NP_001362271.1",
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        {
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          "gene_symbol": "GABRG2",
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          "transcript": "ENST00000639683.1",
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          "gene_symbol": "GABRG2",
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          "hgvs_p": "p.Arg148fs",
          "transcript": "NM_001375347.1",
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        {
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          "gene_symbol": "GABRG2",
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        {
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          ],
          "exon_rank": 4,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
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          "transcript": "ENST00000638772.1",
          "protein_id": "ENSP00000491557.1",
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          "hgvs_c": "n.69-6049delG",
          "hgvs_p": null,
          "transcript": "ENST00000640910.1",
          "protein_id": "ENSP00000492545.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 924,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GABRG2",
          "gene_hgnc_id": 4087,
          "hgvs_c": "c.*178delG",
          "hgvs_p": null,
          "transcript": "ENST00000640757.1",
          "protein_id": "ENSP00000492329.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 118,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 358,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 429,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "GABRG2",
      "gene_hgnc_id": 4087,
      "dbsnp": "rs878854144",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": 0.8799999952316284,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 4.823,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.88,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 14,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP3_Moderate,PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 14,
          "benign_score": 0,
          "pathogenic_score": 14,
          "criteria": [
            "PVS1",
            "PM2",
            "PP3_Moderate",
            "PP5_Moderate"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000639213.2",
          "gene_symbol": "GABRG2",
          "hgnc_id": 4087,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.530delG",
          "hgvs_p": "p.Arg177fs"
        }
      ],
      "clinvar_disease": " 2, 8, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, familial,EPILEPSY,Febrile seizures",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "P:1",
      "phenotype_combined": "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Febrile seizures, familial, 8",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}