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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: 5-161539388-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=161539388&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 161539388,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000393959.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "NM_001371727.1",
          "protein_id": "NP_001358656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7266,
          "mane_select": "ENST00000393959.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000393959.6",
          "protein_id": "ENSP00000377531.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7266,
          "mane_select": "NM_001371727.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000353437.10",
          "protein_id": "ENSP00000274546.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1963,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000520240.5",
          "protein_id": "ENSP00000429320.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2030,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "n.181+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000612710.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 2470,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "NM_021911.3",
          "protein_id": "NP_068711.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000274547.7",
          "protein_id": "ENSP00000274547.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7367,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "NM_000813.3",
          "protein_id": "NP_000804.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000675303.1",
          "protein_id": "ENSP00000502748.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5495,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000675773.1",
          "protein_id": "ENSP00000502701.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.48+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000517901.5",
          "protein_id": "ENSP00000430532.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "c.-23+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000517547.5",
          "protein_id": "ENSP00000429750.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1349,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "n.319+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000522758.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1029,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "n.319+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000674514.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "n.301+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000675245.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GABRB2",
          "gene_hgnc_id": 4082,
          "hgvs_c": "n.390+5839C>G",
          "hgvs_p": null,
          "transcript": "ENST00000675682.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "GABRB2",
      "gene_hgnc_id": 4082,
      "dbsnp": "rs12187676",
      "frequency_reference_population": 0.27658764,
      "hom_count_reference_population": 6299,
      "allele_count_reference_population": 42064,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.276588,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 42064,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 6299,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9100000262260437,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.91,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.059,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000393959.6",
          "gene_symbol": "GABRB2",
          "hgnc_id": 4082,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.237+5839C>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}