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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: 11-72293375-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72293375&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 72293375,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_030813.6",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2116A>C",
          "hgvs_p": "p.Thr706Pro",
          "transcript": "NM_030813.6",
          "protein_id": "NP_110440.1",
          "transcript_support_level": null,
          "aa_start": 706,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 2116,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 2173,
          "cdna_end": null,
          "cdna_length": 10053,
          "mane_select": null,
          "mane_plus": "ENST00000294053.9",
          "biotype": "protein_coding",
          "feature": "NM_030813.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2116A>C",
          "hgvs_p": "p.Thr706Pro",
          "transcript": "ENST00000294053.9",
          "protein_id": "ENSP00000294053.3",
          "transcript_support_level": 1,
          "aa_start": 706,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 2116,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 2173,
          "cdna_end": null,
          "cdna_length": 10053,
          "mane_select": null,
          "mane_plus": "NM_030813.6",
          "biotype": "protein_coding",
          "feature": "ENST00000294053.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2026A>C",
          "hgvs_p": "p.Thr676Pro",
          "transcript": "NM_001258392.3",
          "protein_id": "NP_001245321.1",
          "transcript_support_level": null,
          "aa_start": 676,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 2026,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": 2083,
          "cdna_end": null,
          "cdna_length": 9963,
          "mane_select": "ENST00000538039.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001258392.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2026A>C",
          "hgvs_p": "p.Thr676Pro",
          "transcript": "ENST00000538039.6",
          "protein_id": "ENSP00000441518.1",
          "transcript_support_level": 2,
          "aa_start": 676,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 2026,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": 2083,
          "cdna_end": null,
          "cdna_length": 9963,
          "mane_select": "NM_001258392.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000538039.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "n.*815A>C",
          "hgvs_p": null,
          "transcript": "ENST00000538021.5",
          "protein_id": "ENSP00000445180.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000538021.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "n.*815A>C",
          "hgvs_p": null,
          "transcript": "ENST00000538021.5",
          "protein_id": "ENSP00000445180.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000538021.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2089A>C",
          "hgvs_p": "p.Thr697Pro",
          "transcript": "ENST00000955687.1",
          "protein_id": "ENSP00000625746.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 698,
          "cds_start": 2089,
          "cds_end": null,
          "cds_length": 2097,
          "cdna_start": 2141,
          "cdna_end": null,
          "cdna_length": 2218,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955687.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2071A>C",
          "hgvs_p": "p.Thr691Pro",
          "transcript": "ENST00000543042.6",
          "protein_id": "ENSP00000439746.2",
          "transcript_support_level": 2,
          "aa_start": 691,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 2071,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 2204,
          "cdna_end": null,
          "cdna_length": 2276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000543042.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2059A>C",
          "hgvs_p": "p.Thr687Pro",
          "transcript": "ENST00000955683.1",
          "protein_id": "ENSP00000625742.1",
          "transcript_support_level": null,
          "aa_start": 687,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 2059,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": 2142,
          "cdna_end": null,
          "cdna_length": 3230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955683.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2056A>C",
          "hgvs_p": "p.Thr686Pro",
          "transcript": "ENST00000866362.1",
          "protein_id": "ENSP00000536421.1",
          "transcript_support_level": null,
          "aa_start": 686,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 2056,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 2088,
          "cdna_end": null,
          "cdna_length": 3160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866362.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2056A>C",
          "hgvs_p": "p.Thr686Pro",
          "transcript": "ENST00000866363.1",
          "protein_id": "ENSP00000536422.1",
          "transcript_support_level": null,
          "aa_start": 686,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 2056,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 2133,
          "cdna_end": null,
          "cdna_length": 2359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866363.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2023A>C",
          "hgvs_p": "p.Thr675Pro",
          "transcript": "ENST00000955688.1",
          "protein_id": "ENSP00000625747.1",
          "transcript_support_level": null,
          "aa_start": 675,
          "aa_end": null,
          "aa_length": 676,
          "cds_start": 2023,
          "cds_end": null,
          "cds_length": 2031,
          "cdna_start": 2073,
          "cdna_end": null,
          "cdna_length": 2150,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955688.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.2011A>C",
          "hgvs_p": "p.Thr671Pro",
          "transcript": "ENST00000955686.1",
          "protein_id": "ENSP00000625745.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": 2076,
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          "cdna_length": 2153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955686.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1981A>C",
          "hgvs_p": "p.Thr661Pro",
          "transcript": "NM_001258394.3",
          "protein_id": "NP_001245323.1",
          "transcript_support_level": null,
          "aa_start": 661,
          "aa_end": null,
          "aa_length": 662,
          "cds_start": 1981,
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          "cdna_start": 2280,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001258394.3"
        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1948A>C",
          "hgvs_p": "p.Thr650Pro",
          "transcript": "ENST00000938927.1",
          "protein_id": "ENSP00000608986.1",
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          "aa_end": null,
          "aa_length": 651,
          "cds_start": 1948,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": 2002,
          "cdna_end": null,
          "cdna_length": 2076,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938927.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1939A>C",
          "hgvs_p": "p.Thr647Pro",
          "transcript": "NM_001258393.3",
          "protein_id": "NP_001245322.1",
          "transcript_support_level": null,
          "aa_start": 647,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1939,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1996,
          "cdna_end": null,
          "cdna_length": 9876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001258393.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1939A>C",
          "hgvs_p": "p.Thr647Pro",
          "transcript": "ENST00000340729.9",
          "protein_id": "ENSP00000340385.5",
          "transcript_support_level": 2,
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          "aa_length": 648,
          "cds_start": 1939,
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          "cdna_start": 1999,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000340729.9"
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1906A>C",
          "hgvs_p": "p.Thr636Pro",
          "transcript": "ENST00000955685.1",
          "protein_id": "ENSP00000625744.1",
          "transcript_support_level": null,
          "aa_start": 636,
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          "cds_start": 1906,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": 1989,
          "cdna_end": null,
          "cdna_length": 2065,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955685.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1897A>C",
          "hgvs_p": "p.Thr633Pro",
          "transcript": "ENST00000955684.1",
          "protein_id": "ENSP00000625743.1",
          "transcript_support_level": null,
          "aa_start": 633,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 1897,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": 1956,
          "cdna_end": null,
          "cdna_length": 2067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955684.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.1714A>C",
          "hgvs_p": "p.Thr572Pro",
          "transcript": "ENST00000866364.1",
          "protein_id": "ENSP00000536423.1",
          "transcript_support_level": null,
          "aa_start": 572,
          "aa_end": null,
          "aa_length": 573,
          "cds_start": 1714,
          "cds_end": null,
          "cds_length": 1722,
          "cdna_start": 1771,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.