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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: 13-46084577-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=46084577&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 46084577,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000181383.10",
      "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": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CPB2",
          "gene_hgnc_id": 2300,
          "hgvs_c": "c.151-234T>C",
          "hgvs_p": null,
          "transcript": "NM_001872.5",
          "protein_id": "NP_001863.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1724,
          "mane_select": "ENST00000181383.10",
          "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": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CPB2",
          "gene_hgnc_id": 2300,
          "hgvs_c": "c.151-234T>C",
          "hgvs_p": null,
          "transcript": "ENST00000181383.10",
          "protein_id": "ENSP00000181383.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1724,
          "mane_select": "NM_001872.5",
          "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": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CPB2",
          "gene_hgnc_id": 2300,
          "hgvs_c": "c.151-234T>C",
          "hgvs_p": null,
          "transcript": "NM_001278541.2",
          "protein_id": "NP_001265470.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 386,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1161,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1613,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "CPB2",
          "gene_hgnc_id": 2300,
          "hgvs_c": "c.151-234T>C",
          "hgvs_p": null,
          "transcript": "ENST00000439329.5",
          "protein_id": "ENSP00000400714.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 386,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1161,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1577,
          "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": "CPB2",
          "gene_hgnc_id": 2300,
          "hgvs_c": "c.151-234T>C",
          "hgvs_p": null,
          "transcript": "ENST00000674625.1",
          "protein_id": "ENSP00000502808.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 207,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5585,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CPB2-AS1",
          "gene_hgnc_id": 39898,
          "hgvs_c": "n.152-10276A>G",
          "hgvs_p": null,
          "transcript": "ENST00000415033.4",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 4078,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CPB2-AS1",
          "gene_hgnc_id": 39898,
          "hgvs_c": "n.166-10276A>G",
          "hgvs_p": null,
          "transcript": "ENST00000606243.7",
          "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": 3790,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CPB2-AS1",
          "gene_hgnc_id": 39898,
          "hgvs_c": "n.169-10276A>G",
          "hgvs_p": null,
          "transcript": "ENST00000606351.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 839,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CPB2-AS1",
          "gene_hgnc_id": 39898,
          "hgvs_c": "n.169-10276A>G",
          "hgvs_p": null,
          "transcript": "ENST00000606991.6",
          "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,
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          "cdna_length": 3509,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CPB2-AS1",
          "gene_hgnc_id": 39898,
          "hgvs_c": "n.127-10276A>G",
          "hgvs_p": null,
          "transcript": "ENST00000624622.2",
          "protein_id": null,
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3977,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "CPB2-AS1",
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          "hgvs_c": "n.127-10276A>G",
          "hgvs_p": null,
          "transcript": "ENST00000658197.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3622,
          "mane_select": null,
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          "feature": null
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "CPB2-AS1",
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          "hgvs_c": "n.172-10276A>G",
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          "strand": true,
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          "hgvs_c": "n.161-10276A>G",
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        {
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        {
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          "gene_symbol": "CPB2-AS1",
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          "exon_count": 4,
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          "gene_symbol": "CPB2-AS1",
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          "hgvs_c": "n.126-10276A>G",
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      "gene_symbol": "CPB2",
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      "spliceai_max_score": 0,
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      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "verdict": "Benign",
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          "verdict": "Benign",
          "transcript": "ENST00000606243.7",
          "gene_symbol": "CPB2-AS1",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.166-10276A>G",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}