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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: 15-69426090-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69426090&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 69426090,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000679126.1",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.797T>C",
          "hgvs_p": "p.Leu266Pro",
          "transcript": "NM_001367805.3",
          "protein_id": "NP_001354734.1",
          "transcript_support_level": null,
          "aa_start": 266,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 797,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": 914,
          "cdna_end": null,
          "cdna_length": 3660,
          "mane_select": "ENST00000679126.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.797T>C",
          "hgvs_p": "p.Leu266Pro",
          "transcript": "ENST00000679126.1",
          "protein_id": "ENSP00000504770.1",
          "transcript_support_level": null,
          "aa_start": 266,
          "aa_end": null,
          "aa_length": 974,
          "cds_start": 797,
          "cds_end": null,
          "cds_length": 2925,
          "cdna_start": 914,
          "cdna_end": null,
          "cdna_length": 3660,
          "mane_select": "NM_001367805.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "ENST00000260363.9",
          "protein_id": "ENSP00000260363.4",
          "transcript_support_level": 1,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 960,
          "cds_start": 755,
          "cds_end": null,
          "cds_length": 2883,
          "cdna_start": 975,
          "cdna_end": null,
          "cdna_length": 3723,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "ENST00000352331.8",
          "protein_id": "ENSP00000304978.6",
          "transcript_support_level": 1,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 755,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 917,
          "cdna_end": null,
          "cdna_length": 3351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.797T>C",
          "hgvs_p": "p.Leu266Pro",
          "transcript": "ENST00000559279.6",
          "protein_id": "ENSP00000453386.2",
          "transcript_support_level": 1,
          "aa_start": 266,
          "aa_end": null,
          "aa_length": 810,
          "cds_start": 797,
          "cds_end": null,
          "cds_length": 2433,
          "cdna_start": 904,
          "cdna_end": null,
          "cdna_length": 3129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "n.797T>C",
          "hgvs_p": null,
          "transcript": "ENST00000558346.5",
          "protein_id": "ENSP00000453576.1",
          "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": 1656,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "n.*288T>C",
          "hgvs_p": null,
          "transcript": "ENST00000561089.5",
          "protein_id": "ENSP00000453629.1",
          "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": 2743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "n.*288T>C",
          "hgvs_p": null,
          "transcript": "ENST00000561089.5",
          "protein_id": "ENSP00000453629.1",
          "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": 2743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "NM_138555.4",
          "protein_id": "NP_612565.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 960,
          "cds_start": 755,
          "cds_end": null,
          "cds_length": 2883,
          "cdna_start": 872,
          "cdna_end": null,
          "cdna_length": 3620,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "ENST00000647715.1",
          "protein_id": "ENSP00000497065.1",
          "transcript_support_level": null,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 960,
          "cds_start": 755,
          "cds_end": null,
          "cds_length": 2883,
          "cdna_start": 872,
          "cdna_end": null,
          "cdna_length": 3620,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "ENST00000395392.6",
          "protein_id": "ENSP00000378790.2",
          "transcript_support_level": 5,
          "aa_start": 252,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": 755,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": 928,
          "cdna_end": null,
          "cdna_length": 3357,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "NM_001367804.2",
          "protein_id": "NP_001354733.1",
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          "cds_start": 755,
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          "cdna_start": 872,
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "NM_004856.7",
          "protein_id": "NP_004847.2",
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          "cds_start": 755,
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          "cdna_start": 872,
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.425T>C",
          "hgvs_p": "p.Leu142Pro",
          "transcript": "NM_001281301.2",
          "protein_id": "NP_001268230.1",
          "transcript_support_level": null,
          "aa_start": 142,
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          "aa_length": 766,
          "cds_start": 425,
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          "cdna_start": 735,
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          "mane_select": null,
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        },
        {
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          ],
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          "gene_symbol": "KIF23",
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          "hgvs_c": "c.797T>C",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.797T>C",
          "hgvs_p": "p.Leu266Pro",
          "transcript": "XM_005254798.4",
          "protein_id": "XP_005254855.1",
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          "cdna_start": 914,
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        {
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          "strand": true,
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          ],
          "exon_rank": 8,
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.755T>C",
          "hgvs_p": "p.Leu252Pro",
          "transcript": "XM_047433367.1",
          "protein_id": "XP_047289323.1",
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        },
        {
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          "gene_symbol": "KIF23",
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          "hgvs_c": "c.797T>C",
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          "transcript": "XM_005254799.4",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.467T>C",
          "hgvs_p": "p.Leu156Pro",
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "KIF23",
          "gene_hgnc_id": 6392,
          "hgvs_c": "c.434T>C",
          "hgvs_p": "p.Leu145Pro",
          "transcript": "XM_047433369.1",
          "protein_id": "XP_047289325.1",
          "transcript_support_level": null,
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          "cds_start": 434,
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          "cds_length": 2562,
          "cdna_start": 868,
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          "cdna_length": 3616,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF23",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}