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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: 3-9933227-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9933227&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 9933227,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_153461.4",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1797G>C",
          "hgvs_p": "p.Gly599Gly",
          "transcript": "NM_153460.4",
          "protein_id": "NP_703190.2",
          "transcript_support_level": null,
          "aa_start": 599,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1797,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": 2015,
          "cdna_end": null,
          "cdna_length": 2409,
          "mane_select": "ENST00000403601.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153460.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1797G>C",
          "hgvs_p": "p.Gly599Gly",
          "transcript": "ENST00000403601.8",
          "protein_id": "ENSP00000384969.3",
          "transcript_support_level": 1,
          "aa_start": 599,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1797,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": 2015,
          "cdna_end": null,
          "cdna_length": 2409,
          "mane_select": "NM_153460.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403601.8"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1758G>C",
          "hgvs_p": "p.Gly586Gly",
          "transcript": "ENST00000413608.2",
          "protein_id": "ENSP00000396064.1",
          "transcript_support_level": 1,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1758,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 1758,
          "cdna_end": null,
          "cdna_length": 2147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000413608.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1752G>C",
          "hgvs_p": "p.Gly584Gly",
          "transcript": "ENST00000383812.9",
          "protein_id": "ENSP00000373323.4",
          "transcript_support_level": 1,
          "aa_start": 584,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": 1752,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": 1994,
          "cdna_end": null,
          "cdna_length": 2388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383812.9"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1707G>C",
          "hgvs_p": "p.Gly569Gly",
          "transcript": "ENST00000416074.6",
          "protein_id": "ENSP00000395315.3",
          "transcript_support_level": 1,
          "aa_start": 569,
          "aa_end": null,
          "aa_length": 690,
          "cds_start": 1707,
          "cds_end": null,
          "cds_length": 2073,
          "cdna_start": 1949,
          "cdna_end": null,
          "cdna_length": 2342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000416074.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1701G>C",
          "hgvs_p": "p.Gly567Gly",
          "transcript": "ENST00000455057.5",
          "protein_id": "ENSP00000407894.1",
          "transcript_support_level": 1,
          "aa_start": 567,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 1701,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": 1854,
          "cdna_end": null,
          "cdna_length": 2244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000455057.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.*229G>C",
          "hgvs_p": null,
          "transcript": "ENST00000483582.5",
          "protein_id": "ENSP00000512844.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2467,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000483582.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.*1490G>C",
          "hgvs_p": null,
          "transcript": "ENST00000451271.5",
          "protein_id": "ENSP00000412777.1",
          "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": 2284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000451271.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.2330G>C",
          "hgvs_p": null,
          "transcript": "ENST00000469686.6",
          "protein_id": null,
          "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": 2496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000469686.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.*1490G>C",
          "hgvs_p": null,
          "transcript": "ENST00000451271.5",
          "protein_id": "ENSP00000412777.1",
          "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": 2284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000451271.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288550",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1399+524G>C",
          "hgvs_p": null,
          "transcript": "ENST00000683484.1",
          "protein_id": "ENSP00000507040.1",
          "transcript_support_level": null,
          "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": 3402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000683484.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.2010G>C",
          "hgvs_p": "p.Gly670Gly",
          "transcript": "NM_153461.4",
          "protein_id": "NP_703191.2",
          "transcript_support_level": null,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": 2010,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": 2228,
          "cdna_end": null,
          "cdna_length": 2622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153461.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.2010G>C",
          "hgvs_p": "p.Gly670Gly",
          "transcript": "ENST00000295981.7",
          "protein_id": "ENSP00000295981.3",
          "transcript_support_level": 2,
          "aa_start": 670,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": 2010,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": 2228,
          "cdna_end": null,
          "cdna_length": 2621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000295981.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1965G>C",
          "hgvs_p": "p.Gly655Gly",
          "transcript": "ENST00000869960.1",
          "protein_id": "ENSP00000540019.1",
          "transcript_support_level": null,
          "aa_start": 655,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1965,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2183,
          "cdna_end": null,
          "cdna_length": 2575,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869960.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1929G>C",
          "hgvs_p": "p.Gly643Gly",
          "transcript": "ENST00000869962.1",
          "protein_id": "ENSP00000540021.1",
          "transcript_support_level": null,
          "aa_start": 643,
          "aa_end": null,
          "aa_length": 764,
          "cds_start": 1929,
          "cds_end": null,
          "cds_length": 2295,
          "cdna_start": 2147,
          "cdna_end": null,
          "cdna_length": 2537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869962.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1890G>C",
          "hgvs_p": "p.Gly630Gly",
          "transcript": "ENST00000869980.1",
          "protein_id": "ENSP00000540039.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": 2092,
          "cdna_end": null,
          "cdna_length": 2485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869980.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1890G>C",
          "hgvs_p": "p.Gly630Gly",
          "transcript": "ENST00000870007.1",
          "protein_id": "ENSP00000540066.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": 2079,
          "cdna_end": null,
          "cdna_length": 2467,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870007.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1887G>C",
          "hgvs_p": "p.Gly629Gly",
          "transcript": "ENST00000869959.1",
          "protein_id": "ENSP00000540018.1",
          "transcript_support_level": null,
          "aa_start": 629,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1887,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": 2105,
          "cdna_end": null,
          "cdna_length": 2497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869959.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1869G>C",
          "hgvs_p": "p.Gly623Gly",
          "transcript": "ENST00000870010.1",
          "protein_id": "ENSP00000540069.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": 2055,
          "cdna_end": null,
          "cdna_length": 2443,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870010.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1821G>C",
          "hgvs_p": "p.Gly607Gly",
          "transcript": "ENST00000869992.1",
          "protein_id": "ENSP00000540051.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": 1821,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": 2011,
          "cdna_end": null,
          "cdna_length": 2404,
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          "transcript": "ENST00000683484.1",
          "gene_symbol": "ENSG00000288550",
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          "effects": [
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      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Candidiasis, familial, 9",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}
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