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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: 21-32576782-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32576782&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 32576782,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_144659.7",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "c.640G>C",
          "hgvs_p": "p.Gly214Arg",
          "transcript": "NM_144659.7",
          "protein_id": "NP_653260.1",
          "transcript_support_level": null,
          "aa_start": 214,
          "aa_end": null,
          "aa_length": 215,
          "cds_start": 640,
          "cds_end": null,
          "cds_length": 648,
          "cdna_start": 744,
          "cdna_end": null,
          "cdna_length": 3805,
          "mane_select": "ENST00000300258.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "c.640G>C",
          "hgvs_p": "p.Gly214Arg",
          "transcript": "ENST00000300258.8",
          "protein_id": "ENSP00000300258.3",
          "transcript_support_level": 1,
          "aa_start": 214,
          "aa_end": null,
          "aa_length": 215,
          "cds_start": 640,
          "cds_end": null,
          "cds_length": 648,
          "cdna_start": 744,
          "cdna_end": null,
          "cdna_length": 3805,
          "mane_select": "NM_144659.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "c.1162G>C",
          "hgvs_p": "p.Gly388Arg",
          "transcript": "ENST00000673807.1",
          "protein_id": "ENSP00000501088.1",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": 1784,
          "cdna_end": null,
          "cdna_length": 4781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "c.1162G>C",
          "hgvs_p": "p.Gly388Arg",
          "transcript": "NM_001350338.2",
          "protein_id": "NP_001337267.1",
          "transcript_support_level": null,
          "aa_start": 388,
          "aa_end": null,
          "aa_length": 389,
          "cds_start": 1162,
          "cds_end": null,
          "cds_length": 1170,
          "cdna_start": 1296,
          "cdna_end": null,
          "cdna_length": 4357,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "c.946G>C",
          "hgvs_p": "p.Gly316Arg",
          "transcript": "ENST00000673945.1",
          "protein_id": "ENSP00000501020.1",
          "transcript_support_level": null,
          "aa_start": 316,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": 946,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": 1238,
          "cdna_end": null,
          "cdna_length": 3883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "c.640G>C",
          "hgvs_p": "p.Gly214Arg",
          "transcript": "ENST00000674156.1",
          "protein_id": "ENSP00000501209.1",
          "transcript_support_level": null,
          "aa_start": 214,
          "aa_end": null,
          "aa_length": 215,
          "cds_start": 640,
          "cds_end": null,
          "cds_length": 648,
          "cdna_start": 775,
          "cdna_end": null,
          "cdna_length": 898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "c.382G>C",
          "hgvs_p": "p.Gly128Arg",
          "transcript": "ENST00000472557.6",
          "protein_id": "ENSP00000476481.1",
          "transcript_support_level": 2,
          "aa_start": 128,
          "aa_end": null,
          "aa_length": 129,
          "cds_start": 382,
          "cds_end": null,
          "cds_length": 390,
          "cdna_start": 621,
          "cdna_end": null,
          "cdna_length": 744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "n.766G>C",
          "hgvs_p": null,
          "transcript": "ENST00000491828.5",
          "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": 889,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.937G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673672.1",
          "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": 3979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "n.732G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673776.1",
          "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": 855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "n.*340G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673793.1",
          "protein_id": "ENSP00000501001.1",
          "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": 904,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1015G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673799.1",
          "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": 4248,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1162G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673879.1",
          "protein_id": "ENSP00000500977.1",
          "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": 4423,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1162G>C",
          "hgvs_p": null,
          "transcript": "ENST00000674025.1",
          "protein_id": "ENSP00000501264.1",
          "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": 7312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1162G>C",
          "hgvs_p": null,
          "transcript": "ENST00000674042.1",
          "protein_id": "ENSP00000501000.1",
          "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": 6047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1296G>C",
          "hgvs_p": null,
          "transcript": "NR_146638.2",
          "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": 7333,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1296G>C",
          "hgvs_p": null,
          "transcript": "NR_146639.2",
          "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": 7362,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP10L",
          "gene_hgnc_id": 11657,
          "hgvs_c": "n.*340G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673793.1",
          "protein_id": "ENSP00000501001.1",
          "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": 904,
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "c.1020+1912G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673985.1",
          "protein_id": "ENSP00000500984.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3001,
          "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": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1020+1912G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673072.2",
          "protein_id": "ENSP00000500800.2",
          "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": 2261,
          "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": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "CFAP298-TCP10L",
          "gene_hgnc_id": 54636,
          "hgvs_c": "n.1020+1912G>C",
          "hgvs_p": null,
          "transcript": "ENST00000673633.1",
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      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}