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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: 18-55359126-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55359126&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 55359126,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000354452.8",
      "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": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.370-8123C>G",
          "hgvs_p": null,
          "transcript": "NM_001083962.2",
          "protein_id": "NP_001077431.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8041,
          "mane_select": "ENST00000354452.8",
          "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": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.370-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000354452.8",
          "protein_id": "ENSP00000346440.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8041,
          "mane_select": "NM_001083962.2",
          "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": 21,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.676-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000398339.5",
          "protein_id": "ENSP00000381382.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2551,
          "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": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.370-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000356073.8",
          "protein_id": "ENSP00000348374.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8317,
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.364-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000566286.5",
          "protein_id": "ENSP00000455418.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2119,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.244-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000543082.5",
          "protein_id": "ENSP00000439656.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2399,
          "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": 17,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.369+44328C>G",
          "hgvs_p": null,
          "transcript": "ENST00000567880.5",
          "protein_id": "ENSP00000454366.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1948,
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.160-8126C>G",
          "hgvs_p": null,
          "transcript": "ENST00000564228.5",
          "protein_id": "ENSP00000455261.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1915,
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.370-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000562543.5",
          "protein_id": "ENSP00000455450.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 138,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 418,
          "cdna_start": null,
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          "cdna_length": 598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.-21-8123C>G",
          "hgvs_p": null,
          "transcript": "ENST00000562638.5",
          "protein_id": "ENSP00000456802.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 117,
          "cds_start": -4,
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          "cds_length": 356,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "n.461-8123C>G",
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          "aa_start": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 4,
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          "gene_symbol": "TCF4",
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          "hgvs_c": "n.300-8123C>G",
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          "transcript": "ENST00000625716.2",
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          "intron_rank": 7,
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          "gene_symbol": "TCF4",
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          "hgvs_c": "c.676-8123C>G",
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          "transcript": "NM_001243226.3",
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          "hgvs_c": "c.400-8123C>G",
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          "gene_symbol": "TCF4",
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      "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": -0.8500000238418579,
      "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": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.23,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000354452.8",
          "gene_symbol": "TCF4",
          "hgnc_id": 11634,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.370-8123C>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
}