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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: 14-24117358-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24117358&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 24117358,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000446197.8",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro",
          "transcript": "NM_025230.5",
          "protein_id": "NP_079506.3",
          "transcript_support_level": null,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": 1106,
          "cdna_end": null,
          "cdna_length": 4304,
          "mane_select": "ENST00000446197.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro",
          "transcript": "ENST00000446197.8",
          "protein_id": "ENSP00000415556.4",
          "transcript_support_level": 1,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": 1106,
          "cdna_end": null,
          "cdna_length": 4304,
          "mane_select": "NM_025230.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro",
          "transcript": "ENST00000559115.5",
          "protein_id": "ENSP00000452898.1",
          "transcript_support_level": 1,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": 726,
          "cdna_end": null,
          "cdna_length": 2711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.141G>C",
          "hgvs_p": "p.Pro47Pro",
          "transcript": "ENST00000396936.5",
          "protein_id": "ENSP00000380142.1",
          "transcript_support_level": 1,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 597,
          "cdna_end": null,
          "cdna_length": 2469,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "n.*137G>C",
          "hgvs_p": null,
          "transcript": "ENST00000326009.9",
          "protein_id": "ENSP00000323680.5",
          "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": 2570,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "n.*137G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557802.5",
          "protein_id": "ENSP00000453462.1",
          "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": 4202,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "n.*137G>C",
          "hgvs_p": null,
          "transcript": "ENST00000326009.9",
          "protein_id": "ENSP00000323680.5",
          "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": 2570,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "n.*137G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557802.5",
          "protein_id": "ENSP00000453462.1",
          "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": 4202,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro",
          "transcript": "NM_001163484.2",
          "protein_id": "NP_001156956.1",
          "transcript_support_level": null,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": 576,
          "cdna_end": null,
          "cdna_length": 3774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.298G>C",
          "hgvs_p": "p.Ala100Pro",
          "transcript": "NM_181357.2",
          "protein_id": "NP_852002.1",
          "transcript_support_level": null,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": 458,
          "cdna_end": null,
          "cdna_length": 3656,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.298G>C",
          "hgvs_p": "p.Ala100Pro",
          "transcript": "ENST00000396941.8",
          "protein_id": "ENSP00000380146.4",
          "transcript_support_level": 2,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": 417,
          "cdna_end": null,
          "cdna_length": 2402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.298G>C",
          "hgvs_p": "p.Ala100Pro",
          "transcript": "ENST00000561375.5",
          "protein_id": "ENSP00000453916.1",
          "transcript_support_level": 3,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 181,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 548,
          "cdna_start": 498,
          "cdna_end": null,
          "cdna_length": 748,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro",
          "transcript": "ENST00000561041.5",
          "protein_id": "ENSP00000454129.1",
          "transcript_support_level": 3,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 462,
          "cdna_start": 484,
          "cdna_end": null,
          "cdna_length": 570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.298G>C",
          "hgvs_p": "p.Ala100Pro",
          "transcript": "ENST00000558638.5",
          "protein_id": "ENSP00000453505.1",
          "transcript_support_level": 4,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 148,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 449,
          "cdna_start": 430,
          "cdna_end": null,
          "cdna_length": 581,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro",
          "transcript": "ENST00000559593.5",
          "protein_id": "ENSP00000452915.1",
          "transcript_support_level": 4,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 376,
          "cds_end": null,
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          "cdna_start": 523,
          "cdna_end": null,
          "cdna_length": 575,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.298G>C",
          "hgvs_p": "p.Ala100Pro",
          "transcript": "ENST00000561001.5",
          "protein_id": "ENSP00000453678.1",
          "transcript_support_level": 4,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 127,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 384,
          "cdna_start": 459,
          "cdna_end": null,
          "cdna_length": 545,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.298G>C",
          "hgvs_p": "p.Ala100Pro",
          "transcript": "ENST00000560713.5",
          "protein_id": "ENSP00000453208.1",
          "transcript_support_level": 4,
          "aa_start": 100,
          "aa_end": null,
          "aa_length": 115,
          "cds_start": 298,
          "cds_end": null,
          "cds_length": 348,
          "cdna_start": 493,
          "cdna_end": null,
          "cdna_length": 543,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.321G>C",
          "hgvs_p": "p.Pro107Pro",
          "transcript": "ENST00000560901.5",
          "protein_id": "ENSP00000453132.1",
          "transcript_support_level": 3,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 144,
          "cds_start": 321,
          "cds_end": null,
          "cds_length": 436,
          "cdna_start": 488,
          "cdna_end": null,
          "cdna_length": 603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "c.321G>C",
          "hgvs_p": "p.Pro107Pro",
          "transcript": "ENST00000559382.5",
          "protein_id": "ENSP00000453587.1",
          "transcript_support_level": 5,
          "aa_start": 107,
          "aa_end": null,
          "aa_length": 117,
          "cds_start": 321,
          "cds_end": null,
          "cds_length": 356,
          "cdna_start": 514,
          "cdna_end": null,
          "cdna_length": 549,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "n.*137G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557888.5",
          "protein_id": "ENSP00000453550.1",
          "transcript_support_level": 4,
          "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": 552,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCAF11",
          "gene_hgnc_id": 20258,
          "hgvs_c": "n.*77G>C",
          "hgvs_p": null,
          "transcript": "ENST00000558706.5",
          "protein_id": "ENSP00000453803.1",
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      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000446197.8",
          "gene_symbol": "DCAF11",
          "hgnc_id": 20258,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.376G>C",
          "hgvs_p": "p.Ala126Pro"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}