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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: 1-58849530-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=58849530&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 58849530,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000424592.1",
      "consequences": [
        {
          "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": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.154-44015A>T",
          "hgvs_p": null,
          "transcript": "ENST00000419531.3",
          "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": 2518,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000231740",
          "gene_hgnc_id": null,
          "hgvs_c": "n.31+1694T>A",
          "hgvs_p": null,
          "transcript": "ENST00000424592.1",
          "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": 395,
          "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": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.179-46727A>T",
          "hgvs_p": null,
          "transcript": "ENST00000649834.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2366,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.179-37041A>T",
          "hgvs_p": null,
          "transcript": "ENST00000653297.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2024,
          "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": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.174-44015A>T",
          "hgvs_p": null,
          "transcript": "ENST00000663144.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2401,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.177-44015A>T",
          "hgvs_p": null,
          "transcript": "ENST00000693275.3",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 712,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.102+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000715609.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1654,
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.143+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000715621.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1396,
          "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": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.151+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842947.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1007,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.109+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842948.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1119,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.49+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842949.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "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": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.162+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842950.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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        {
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          "canonical": false,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "JUN-DT",
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          "hgvs_c": "n.143+64225A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842951.1",
          "protein_id": null,
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          "mane_select": null,
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        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.153-60083A>T",
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          "transcript": "ENST00000842957.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.152-44015A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842958.1",
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        {
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          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.181-49517A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842959.1",
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          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.65-44015A>T",
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          "transcript": "ENST00000842960.1",
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.174-26451A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842961.1",
          "protein_id": null,
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          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.294-44015A>T",
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        {
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          ],
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          "gene_symbol": "JUN-DT",
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        {
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          "consequences": [
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          ],
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "JUN-DT",
          "gene_hgnc_id": 49450,
          "hgvs_c": "n.405-5001A>T",
          "hgvs_p": null,
          "transcript": "ENST00000842969.1",
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          "cdna_length": 659,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
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          "verdict": "Benign",
          "transcript": "ENST00000419531.3",
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          "effects": [
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}