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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: 3-9930124-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9930124&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 9930124,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000403601.8",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1253C>T",
          "hgvs_p": "p.Thr418Ile",
          "transcript": "NM_153460.4",
          "protein_id": "NP_703190.2",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": 1471,
          "cdna_end": null,
          "cdna_length": 2409,
          "mane_select": "ENST00000403601.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1253C>T",
          "hgvs_p": "p.Thr418Ile",
          "transcript": "ENST00000403601.8",
          "protein_id": "ENSP00000384969.3",
          "transcript_support_level": 1,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": 1471,
          "cdna_end": null,
          "cdna_length": 2409,
          "mane_select": "NM_153460.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1253C>T",
          "hgvs_p": "p.Thr418Ile",
          "transcript": "ENST00000413608.2",
          "protein_id": "ENSP00000396064.1",
          "transcript_support_level": 1,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 1253,
          "cdna_end": null,
          "cdna_length": 2147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Thr403Ile",
          "transcript": "ENST00000383812.9",
          "protein_id": "ENSP00000373323.4",
          "transcript_support_level": 1,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": 1450,
          "cdna_end": null,
          "cdna_length": 2388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1202C>T",
          "hgvs_p": "p.Thr401Ile",
          "transcript": "ENST00000416074.6",
          "protein_id": "ENSP00000395315.3",
          "transcript_support_level": 1,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 690,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2073,
          "cdna_start": 1444,
          "cdna_end": null,
          "cdna_length": 2342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1157C>T",
          "hgvs_p": "p.Thr386Ile",
          "transcript": "ENST00000455057.5",
          "protein_id": "ENSP00000407894.1",
          "transcript_support_level": 1,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 1157,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": 1310,
          "cdna_end": null,
          "cdna_length": 2244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Thr403Ile",
          "transcript": "ENST00000483582.5",
          "protein_id": "ENSP00000512844.1",
          "transcript_support_level": 1,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": 1426,
          "cdna_end": null,
          "cdna_length": 2467,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1178C>T",
          "hgvs_p": "p.Thr393Ile",
          "transcript": "ENST00000436503.6",
          "protein_id": "ENSP00000401128.2",
          "transcript_support_level": 1,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": 1178,
          "cds_end": null,
          "cds_length": 1408,
          "cdna_start": 1375,
          "cdna_end": null,
          "cdna_length": 1605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.*985C>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": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.1825C>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": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288550",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1169C>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": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "n.*985C>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": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1466C>T",
          "hgvs_p": "p.Thr489Ile",
          "transcript": "NM_153461.4",
          "protein_id": "NP_703191.2",
          "transcript_support_level": null,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": 1684,
          "cdna_end": null,
          "cdna_length": 2622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1466C>T",
          "hgvs_p": "p.Thr489Ile",
          "transcript": "ENST00000295981.7",
          "protein_id": "ENSP00000295981.3",
          "transcript_support_level": 2,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": 1466,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": 1684,
          "cdna_end": null,
          "cdna_length": 2621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1253C>T",
          "hgvs_p": "p.Thr418Ile",
          "transcript": "NM_001203263.2",
          "protein_id": "NP_001190192.2",
          "transcript_support_level": null,
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          "aa_length": 707,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": 1471,
          "cdna_end": null,
          "cdna_length": 2370,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Thr403Ile",
          "transcript": "NM_032732.6",
          "protein_id": "NP_116121.3",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": 1426,
          "cdna_end": null,
          "cdna_length": 2364,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1214C>T",
          "hgvs_p": "p.Thr405Ile",
          "transcript": "NM_001367278.1",
          "protein_id": "NP_001354207.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 694,
          "cds_start": 1214,
          "cds_end": null,
          "cds_length": 2085,
          "cdna_start": 1432,
          "cdna_end": null,
          "cdna_length": 2331,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1214C>T",
          "hgvs_p": "p.Thr405Ile",
          "transcript": "ENST00000696824.1",
          "protein_id": "ENSP00000512902.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 694,
          "cds_start": 1214,
          "cds_end": null,
          "cds_length": 2085,
          "cdna_start": 1414,
          "cdna_end": null,
          "cdna_length": 2285,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Thr403Ile",
          "transcript": "NM_001367280.1",
          "protein_id": "NP_001354209.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 1426,
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          "cdna_length": 2325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL17RC",
          "gene_hgnc_id": 18358,
          "hgvs_c": "c.1208C>T",
          "hgvs_p": "p.Thr403Ile",
          "transcript": "ENST00000696816.1",
          "protein_id": "ENSP00000512897.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 1208,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 1410,
          "cdna_end": null,
          "cdna_length": 2281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
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      "clinvar_submissions_summary": "US:1",
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      "pathogenicity_classification_combined": "Uncertain significance",
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