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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: 2-25432577-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25432577&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "2",
      "pos": 25432577,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000406818.8",
      "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": 21,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1457+309A>C",
          "hgvs_p": null,
          "transcript": "NM_021907.5",
          "protein_id": "NP_068707.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2417,
          "mane_select": "ENST00000406818.8",
          "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": 21,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1457+309A>C",
          "hgvs_p": null,
          "transcript": "ENST00000406818.8",
          "protein_id": "ENSP00000384084.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2417,
          "mane_select": "NM_021907.5",
          "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": 20,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1457+309A>C",
          "hgvs_p": null,
          "transcript": "ENST00000407661.7",
          "protein_id": "ENSP00000385193.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2420,
          "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": 19,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1367+309A>C",
          "hgvs_p": null,
          "transcript": "ENST00000407038.7",
          "protein_id": "ENSP00000384767.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": null,
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          "cdna_length": 2294,
          "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": 18,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1367+309A>C",
          "hgvs_p": null,
          "transcript": "ENST00000405222.5",
          "protein_id": "ENSP00000384787.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 560,
          "cds_start": -4,
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          "cds_length": 1683,
          "cdna_start": null,
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          "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": 18,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "n.*852+309A>C",
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          "transcript": "ENST00000398951.6",
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          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1457+309A>C",
          "hgvs_p": null,
          "transcript": "NM_001320936.2",
          "protein_id": "NP_001307865.1",
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 20,
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          "gene_symbol": "DTNB",
          "gene_hgnc_id": 3058,
          "hgvs_c": "c.1457+309A>C",
          "hgvs_p": null,
          "transcript": "NM_001256303.2",
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        },
        {
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          "exon_count": 18,
          "intron_rank": 13,
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          "gene_symbol": "DTNB",
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          "hgvs_c": "n.1591+309A>C",
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          "transcript": "ENST00000496972.6",
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          "cdna_length": 2328,
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        },
        {
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          ],
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          "exon_count": 21,
          "intron_rank": 13,
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          "gene_symbol": "DTNB",
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          "hgvs_c": "n.1560+309A>C",
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          "transcript": "NR_147180.2",
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          "aa_length": null,
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          "cdna_start": null,
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          "cdna_length": 2413,
          "mane_select": null,
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          "biotype": null,
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      ],
      "gene_symbol": "DTNB",
      "gene_hgnc_id": 3058,
      "dbsnp": "rs2292225",
      "frequency_reference_population": 0.5648493,
      "hom_count_reference_population": 25493,
      "allele_count_reference_population": 85865,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.564849,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 85865,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 25493,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8700000047683716,
      "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": -0.87,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.322,
      "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": "ENST00000406818.8",
          "gene_symbol": "DTNB",
          "hgnc_id": 3058,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1457+309A>C",
          "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
}