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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: 3-9933424-CC-AT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9933424&ref=CC&alt=AT&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "IL17RC",
          "hgnc_id": 18358,
          "hgvs_c": "c.2207_2208delCCinsAT",
          "hgvs_p": "p.Ala736Asp",
          "inheritance_mode": "Unknown,AD",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "NM_153461.4",
          "verdict": "Uncertain_significance"
        },
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "ENSG00000288550",
          "hgnc_id": null,
          "hgvs_c": "n.1399+721_1399+722delCCinsAT",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "ENST00000683484.1",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "AT",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "3",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 720,
          "aa_ref": "A",
          "aa_start": 665,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2409,
          "cdna_start": 2212,
          "cds_end": null,
          "cds_length": 2163,
          "cds_start": 1994,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_153460.4",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.1994_1995delCCinsAT",
          "hgvs_p": "p.Ala665Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000403601.8",
          "protein_coding": true,
          "protein_id": "NP_703190.2",
          "strand": true,
          "transcript": "NM_153460.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 720,
          "aa_ref": "A",
          "aa_start": 665,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2409,
          "cdna_start": 2212,
          "cds_end": null,
          "cds_length": 2163,
          "cds_start": 1994,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000403601.8",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.1994_1995delCCinsAT",
          "hgvs_p": "p.Ala665Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_153460.4",
          "protein_coding": true,
          "protein_id": "ENSP00000384969.3",
          "strand": true,
          "transcript": "ENST00000403601.8",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 707,
          "aa_ref": "A",
          "aa_start": 652,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2147,
          "cdna_start": 1955,
          "cds_end": null,
          "cds_length": 2124,
          "cds_start": 1955,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000413608.2",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.1955_1956delCCinsAT",
          "hgvs_p": "p.Ala652Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000396064.1",
          "strand": true,
          "transcript": "ENST00000413608.2",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 705,
          "aa_ref": "A",
          "aa_start": 650,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2388,
          "cdna_start": 2191,
          "cds_end": null,
          "cds_length": 2118,
          "cds_start": 1949,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000383812.9",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.1949_1950delCCinsAT",
          "hgvs_p": "p.Ala650Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000373323.4",
          "strand": true,
          "transcript": "ENST00000383812.9",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 690,
          "aa_ref": "A",
          "aa_start": 635,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2342,
          "cdna_start": 2146,
          "cds_end": null,
          "cds_length": 2073,
          "cds_start": 1904,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000416074.6",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.1904_1905delCCinsAT",
          "hgvs_p": "p.Ala635Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000395315.3",
          "strand": true,
          "transcript": "ENST00000416074.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 688,
          "aa_ref": "A",
          "aa_start": 633,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2244,
          "cdna_start": 2051,
          "cds_end": null,
          "cds_length": 2067,
          "cds_start": 1898,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000455057.5",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.1898_1899delCCinsAT",
          "hgvs_p": "p.Ala633Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000407894.1",
          "strand": true,
          "transcript": "ENST00000455057.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 538,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2467,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1617,
          "cds_start": null,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_count": 17,
          "exon_rank": 17,
          "exon_rank_end": null,
          "feature": "ENST00000483582.5",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.*426_*427delCCinsAT",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000512844.1",
          "strand": true,
          "transcript": "ENST00000483582.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2284,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 17,
          "exon_rank": 17,
          "exon_rank_end": null,
          "feature": "ENST00000451271.5",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "n.*1687_*1688delCCinsAT",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000412777.1",
          "strand": true,
          "transcript": "ENST00000451271.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2284,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_count": 17,
          "exon_rank": 17,
          "exon_rank_end": null,
          "feature": "ENST00000451271.5",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "n.*1687_*1688delCCinsAT",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000412777.1",
          "strand": true,
          "transcript": "ENST00000451271.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 3402,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 24,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000683484.1",
          "gene_hgnc_id": null,
          "gene_symbol": "ENSG00000288550",
          "hgvs_c": "n.1399+721_1399+722delCCinsAT",
          "hgvs_p": null,
          "intron_rank": 16,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000507040.1",
          "strand": true,
          "transcript": "ENST00000683484.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 791,
          "aa_ref": "A",
          "aa_start": 736,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2622,
          "cdna_start": 2425,
          "cds_end": null,
          "cds_length": 2376,
          "cds_start": 2207,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_153461.4",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2207_2208delCCinsAT",
          "hgvs_p": "p.Ala736Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_703191.2",
          "strand": true,
          "transcript": "NM_153461.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 791,
          "aa_ref": "A",
          "aa_start": 736,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2621,
          "cdna_start": 2425,
          "cds_end": null,
          "cds_length": 2376,
          "cds_start": 2207,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000295981.7",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2207_2208delCCinsAT",
          "hgvs_p": "p.Ala736Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000295981.3",
          "strand": true,
          "transcript": "ENST00000295981.7",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 776,
          "aa_ref": "A",
          "aa_start": 721,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2575,
          "cdna_start": 2380,
          "cds_end": null,
          "cds_length": 2331,
          "cds_start": 2162,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 18,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000869960.1",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2162_2163delCCinsAT",
          "hgvs_p": "p.Ala721Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000540019.1",
          "strand": true,
          "transcript": "ENST00000869960.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 764,
          "aa_ref": "A",
          "aa_start": 709,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2537,
          "cdna_start": 2344,
          "cds_end": null,
          "cds_length": 2295,
          "cds_start": 2126,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000869962.1",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2126_2127delCCinsAT",
          "hgvs_p": "p.Ala709Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000540021.1",
          "strand": true,
          "transcript": "ENST00000869962.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 751,
          "aa_ref": "A",
          "aa_start": 696,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2485,
          "cdna_start": 2289,
          "cds_end": null,
          "cds_length": 2256,
          "cds_start": 2087,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 20,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000869980.1",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2087_2088delCCinsAT",
          "hgvs_p": "p.Ala696Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000540039.1",
          "strand": true,
          "transcript": "ENST00000869980.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 751,
          "aa_ref": "A",
          "aa_start": 696,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2467,
          "cdna_start": 2276,
          "cds_end": null,
          "cds_length": 2256,
          "cds_start": 2087,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000870007.1",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2087_2088delCCinsAT",
          "hgvs_p": "p.Ala696Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000540066.1",
          "strand": true,
          "transcript": "ENST00000870007.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 750,
          "aa_ref": "A",
          "aa_start": 695,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2497,
          "cdna_start": 2302,
          "cds_end": null,
          "cds_length": 2253,
          "cds_start": 2084,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000869959.1",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2084_2085delCCinsAT",
          "hgvs_p": "p.Ala695Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000540018.1",
          "strand": true,
          "transcript": "ENST00000869959.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 744,
          "aa_ref": "A",
          "aa_start": 689,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2443,
          "cdna_start": 2252,
          "cds_end": null,
          "cds_length": 2235,
          "cds_start": 2066,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 19,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000870010.1",
          "gene_hgnc_id": 18358,
          "gene_symbol": "IL17RC",
          "hgvs_c": "c.2066_2067delCCinsAT",
          "hgvs_p": "p.Ala689Asp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000540069.1",
          "strand": true,
          "transcript": "ENST00000870010.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "D",
          "aa_end": null,
          "aa_length": 728,
          "aa_ref": "A",
          "aa_start": 673,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2404,
          "cdna_start": 2208,
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.