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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: 17-39722777-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39722777&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "17",
      "pos": 39722777,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000269571.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.1947-542A>G",
          "hgvs_p": null,
          "transcript": "NM_004448.4",
          "protein_id": "NP_004439.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4557,
          "mane_select": "ENST00000269571.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.1947-542A>G",
          "hgvs_p": null,
          "transcript": "ENST00000269571.10",
          "protein_id": "ENSP00000269571.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4557,
          "mane_select": "NM_004448.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.1947-542A>G",
          "hgvs_p": null,
          "transcript": "ENST00000584450.5",
          "protein_id": "ENSP00000463714.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "n.*1737-542A>G",
          "hgvs_p": null,
          "transcript": "ENST00000578373.5",
          "protein_id": "ENSP00000463427.1",
          "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": 4523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2064-542A>G",
          "hgvs_p": null,
          "transcript": "NM_001382784.1",
          "protein_id": "NP_001369713.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2049-542A>G",
          "hgvs_p": null,
          "transcript": "NM_001382785.1",
          "protein_id": "NP_001369714.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1289,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3870,
          "cdna_start": null,
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          "cdna_length": 4659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2064-542A>G",
          "hgvs_p": null,
          "transcript": "NM_001382786.1",
          "protein_id": "NP_001369715.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1282,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2022-542A>G",
          "hgvs_p": null,
          "transcript": "NM_001382787.1",
          "protein_id": "NP_001369716.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1280,
          "cds_start": -4,
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          "cds_length": 3843,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 27,
          "intron_rank": 16,
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          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.1977-542A>G",
          "hgvs_p": null,
          "transcript": "NM_001382788.1",
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        {
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          "gene_symbol": "ERBB2",
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          "transcript": "NM_001382789.1",
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          "gene_symbol": "ERBB2",
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          "gene_symbol": "ERBB2",
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      "computational_score_selected": -1.0299999713897705,
      "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": -1.03,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.84,
      "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": "ENST00000269571.10",
          "gene_symbol": "ERBB2",
          "hgnc_id": 3430,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.1947-542A>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
}