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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: 3-9928619-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9928619&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 9928619,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_153461.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1099C>T",
          "hgvs_p": "p.Leu367Phe",
          "transcript": "NM_153460.4",
          "protein_id": "NP_703190.2",
          "transcript_support_level": null,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1099,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000403601.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153460.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1099C>T",
          "hgvs_p": "p.Leu367Phe",
          "transcript": "ENST00000403601.8",
          "protein_id": "ENSP00000384969.3",
          "transcript_support_level": 1,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1099,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_153460.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403601.8"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1099C>T",
          "hgvs_p": "p.Leu367Phe",
          "transcript": "ENST00000413608.2",
          "protein_id": "ENSP00000396064.1",
          "transcript_support_level": 1,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1099,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000413608.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1054C>T",
          "hgvs_p": "p.Leu352Phe",
          "transcript": "ENST00000383812.9",
          "protein_id": "ENSP00000373323.4",
          "transcript_support_level": 1,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383812.9"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1054C>T",
          "hgvs_p": "p.Leu352Phe",
          "transcript": "ENST00000483582.5",
          "protein_id": "ENSP00000512844.1",
          "transcript_support_level": 1,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": 1054,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000483582.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1024C>T",
          "hgvs_p": "p.Leu342Phe",
          "transcript": "ENST00000436503.6",
          "protein_id": "ENSP00000401128.2",
          "transcript_support_level": 1,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": 1024,
          "cds_end": null,
          "cds_length": 1408,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000436503.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1059+133C>T",
          "hgvs_p": null,
          "transcript": "ENST00000416074.6",
          "protein_id": "ENSP00000395315.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 690,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2073,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000416074.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1014+133C>T",
          "hgvs_p": null,
          "transcript": "ENST00000455057.5",
          "protein_id": "ENSP00000407894.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000455057.5"
        },
        {
          "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": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.1671C>T",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000469686.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288550",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1015C>T",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000683484.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.*842+133C>T",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000451271.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1312C>T",
          "hgvs_p": "p.Leu438Phe",
          "transcript": "NM_153461.4",
          "protein_id": "NP_703191.2",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": 1312,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153461.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1312C>T",
          "hgvs_p": "p.Leu438Phe",
          "transcript": "ENST00000295981.7",
          "protein_id": "ENSP00000295981.3",
          "transcript_support_level": 2,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": 1312,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000295981.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1267C>T",
          "hgvs_p": "p.Leu423Phe",
          "transcript": "ENST00000869960.1",
          "protein_id": "ENSP00000540019.1",
          "transcript_support_level": null,
          "aa_start": 423,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 1267,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869960.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1231C>T",
          "hgvs_p": "p.Leu411Phe",
          "transcript": "ENST00000869962.1",
          "protein_id": "ENSP00000540021.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 764,
          "cds_start": 1231,
          "cds_end": null,
          "cds_length": 2295,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869962.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1192C>T",
          "hgvs_p": "p.Leu398Phe",
          "transcript": "ENST00000869980.1",
          "protein_id": "ENSP00000540039.1",
          "transcript_support_level": null,
          "aa_start": 398,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1192,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869980.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1231C>T",
          "hgvs_p": "p.Leu411Phe",
          "transcript": "ENST00000870007.1",
          "protein_id": "ENSP00000540066.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1231,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870007.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1228C>T",
          "hgvs_p": "p.Leu410Phe",
          "transcript": "ENST00000869959.1",
          "protein_id": "ENSP00000540018.1",
          "transcript_support_level": null,
          "aa_start": 410,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1228,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869959.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1231C>T",
          "hgvs_p": "p.Leu411Phe",
          "transcript": "ENST00000870010.1",
          "protein_id": "ENSP00000540069.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 744,
          "cds_start": 1231,
          "cds_end": null,
          "cds_length": 2235,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870010.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1123C>T",
          "hgvs_p": "p.Leu375Phe",
          "transcript": "ENST00000869992.1",
          "protein_id": "ENSP00000540051.1",
          "transcript_support_level": null,
          "aa_start": 375,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": 1123,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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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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  "message": null
}