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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: 11-61264529-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61264529&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 61264529,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_152718.2",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2188G>C",
          "hgvs_p": "p.Asp730His",
          "transcript": "NM_152718.2",
          "protein_id": "NP_689931.2",
          "transcript_support_level": null,
          "aa_start": 730,
          "aa_end": null,
          "aa_length": 955,
          "cds_start": 2188,
          "cds_end": null,
          "cds_length": 2868,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000335613.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_152718.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2188G>C",
          "hgvs_p": "p.Asp730His",
          "transcript": "ENST00000335613.10",
          "protein_id": "ENSP00000334186.5",
          "transcript_support_level": 1,
          "aa_start": 730,
          "aa_end": null,
          "aa_length": 955,
          "cds_start": 2188,
          "cds_end": null,
          "cds_length": 2868,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_152718.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000335613.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "n.*1585G>C",
          "hgvs_p": null,
          "transcript": "ENST00000301770.10",
          "protein_id": "ENSP00000301770.6",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000301770.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "n.*1585G>C",
          "hgvs_p": null,
          "transcript": "ENST00000301770.10",
          "protein_id": "ENSP00000301770.6",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000301770.10"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2332G>C",
          "hgvs_p": "p.Asp778His",
          "transcript": "ENST00000870661.1",
          "protein_id": "ENSP00000540720.1",
          "transcript_support_level": null,
          "aa_start": 778,
          "aa_end": null,
          "aa_length": 1003,
          "cds_start": 2332,
          "cds_end": null,
          "cds_length": 3012,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870661.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2302G>C",
          "hgvs_p": "p.Asp768His",
          "transcript": "ENST00000870667.1",
          "protein_id": "ENSP00000540726.1",
          "transcript_support_level": null,
          "aa_start": 768,
          "aa_end": null,
          "aa_length": 993,
          "cds_start": 2302,
          "cds_end": null,
          "cds_length": 2982,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870667.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2212G>C",
          "hgvs_p": "p.Asp738His",
          "transcript": "ENST00000870665.1",
          "protein_id": "ENSP00000540724.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 963,
          "cds_start": 2212,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870665.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2203G>C",
          "hgvs_p": "p.Asp735His",
          "transcript": "ENST00000870663.1",
          "protein_id": "ENSP00000540722.1",
          "transcript_support_level": null,
          "aa_start": 735,
          "aa_end": null,
          "aa_length": 960,
          "cds_start": 2203,
          "cds_end": null,
          "cds_length": 2883,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870663.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2173G>C",
          "hgvs_p": "p.Asp725His",
          "transcript": "ENST00000917393.1",
          "protein_id": "ENSP00000587452.1",
          "transcript_support_level": null,
          "aa_start": 725,
          "aa_end": null,
          "aa_length": 950,
          "cds_start": 2173,
          "cds_end": null,
          "cds_length": 2853,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917393.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2164G>C",
          "hgvs_p": "p.Asp722His",
          "transcript": "ENST00000870659.1",
          "protein_id": "ENSP00000540718.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 2164,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870659.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2101G>C",
          "hgvs_p": "p.Asp701His",
          "transcript": "ENST00000917391.1",
          "protein_id": "ENSP00000587450.1",
          "transcript_support_level": null,
          "aa_start": 701,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2101,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917391.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2071G>C",
          "hgvs_p": "p.Asp691His",
          "transcript": "ENST00000870668.1",
          "protein_id": "ENSP00000540727.1",
          "transcript_support_level": null,
          "aa_start": 691,
          "aa_end": null,
          "aa_length": 916,
          "cds_start": 2071,
          "cds_end": null,
          "cds_length": 2751,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870668.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2035G>C",
          "hgvs_p": "p.Asp679His",
          "transcript": "ENST00000870666.1",
          "protein_id": "ENSP00000540725.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 904,
          "cds_start": 2035,
          "cds_end": null,
          "cds_length": 2715,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870666.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.2008G>C",
          "hgvs_p": "p.Asp670His",
          "transcript": "ENST00000870658.1",
          "protein_id": "ENSP00000540717.1",
          "transcript_support_level": null,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 2008,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870658.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.1903G>C",
          "hgvs_p": "p.Asp635His",
          "transcript": "ENST00000917395.1",
          "protein_id": "ENSP00000587454.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 1903,
          "cds_end": null,
          "cds_length": 2583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917395.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.1897G>C",
          "hgvs_p": "p.Asp633His",
          "transcript": "ENST00000917392.1",
          "protein_id": "ENSP00000587451.1",
          "transcript_support_level": null,
          "aa_start": 633,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 1897,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917392.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.1894G>C",
          "hgvs_p": "p.Asp632His",
          "transcript": "ENST00000870664.1",
          "protein_id": "ENSP00000540723.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 857,
          "cds_start": 1894,
          "cds_end": null,
          "cds_length": 2574,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870664.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.1879G>C",
          "hgvs_p": "p.Asp627His",
          "transcript": "ENST00000870662.1",
          "protein_id": "ENSP00000540721.1",
          "transcript_support_level": null,
          "aa_start": 627,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 1879,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870662.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.1831G>C",
          "hgvs_p": "p.Asp611His",
          "transcript": "ENST00000917396.1",
          "protein_id": "ENSP00000587455.1",
          "transcript_support_level": null,
          "aa_start": 611,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": 1831,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917396.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VWCE",
          "gene_hgnc_id": 26487,
          "hgvs_c": "c.1801G>C",
          "hgvs_p": "p.Asp601His",
          "transcript": "ENST00000917397.1",
          "protein_id": "ENSP00000587456.1",
          "transcript_support_level": null,
          "aa_start": 601,
          "aa_end": null,
          "aa_length": 826,
          "cds_start": 1801,
          "cds_end": null,
          "cds_length": 2481,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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}