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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: 11-131455352-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=131455352&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 131455352,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000683400.1",
      "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.82+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001352005.2",
          "protein_id": "NP_001338934.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 355,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1068,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2936,
          "mane_select": "ENST00000683400.1",
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.82+84464C>T",
          "hgvs_p": null,
          "transcript": "ENST00000683400.1",
          "protein_id": "ENSP00000507313.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 355,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1068,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2936,
          "mane_select": "NM_001352005.2",
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.82+84464C>T",
          "hgvs_p": null,
          "transcript": "ENST00000374791.7",
          "protein_id": "ENSP00000363923.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3040,
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.82+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001352001.2",
          "protein_id": "NP_001338930.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2972,
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.82+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001352003.2",
          "protein_id": "NP_001338932.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2939,
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.-66+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001352006.2",
          "protein_id": "NP_001338935.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3056,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.82+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001048209.2",
          "protein_id": "NP_001041674.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2903,
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.-42+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001386967.1",
          "protein_id": "NP_001373896.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
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          "cdna_length": 3011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.-66+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001352007.2",
          "protein_id": "NP_001338936.1",
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          "aa_start": null,
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          "aa_length": 335,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 1,
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          "gene_symbol": "NTM",
          "gene_hgnc_id": 17941,
          "hgvs_c": "c.-42+84464C>T",
          "hgvs_p": null,
          "transcript": "NM_001386968.1",
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          "cds_start": -4,
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          "mane_select": null,
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          "gene_symbol": "NTM",
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        {
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          "gene_symbol": "NTM",
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          "hgvs_c": "c.-181C>T",
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          "transcript": "ENST00000550167.5",
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      ],
      "gene_symbol": "NTM",
      "gene_hgnc_id": 17941,
      "dbsnp": "rs11601906",
      "frequency_reference_population": 0.03554602,
      "hom_count_reference_population": 132,
      "allele_count_reference_population": 5417,
      "gnomad_exomes_af": 0.078125,
      "gnomad_genomes_af": 0.0355281,
      "gnomad_exomes_ac": 5,
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      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 132,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.949999988079071,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.95,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.727,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "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": "ENST00000683400.1",
          "gene_symbol": "NTM",
          "hgnc_id": 17941,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.82+84464C>T",
          "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
}