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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: 11-6932310-CT-TC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6932310&ref=CT&alt=TC&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "ZNF215",
          "hgnc_id": 13007,
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "inheritance_mode": "Unknown",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "NM_013250.4",
          "verdict": "Uncertain_significance"
        },
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "LOC107984019",
          "hgnc_id": null,
          "hgvs_c": "n.43-5149_43-5148delAGinsGA",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "XR_001748111.2",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "TC",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "11",
      "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": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3655,
          "cdna_start": 623,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_013250.4",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000278319.10",
          "protein_coding": true,
          "protein_id": "NP_037382.2",
          "strand": true,
          "transcript": "NM_013250.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 3655,
          "cdna_start": 623,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000278319.10",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_013250.4",
          "protein_coding": true,
          "protein_id": "ENSP00000278319.5",
          "strand": true,
          "transcript": "ENST00000278319.10",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 304,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1396,
          "cdna_start": 125,
          "cds_end": null,
          "cds_length": 915,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000529903.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000432306.1",
          "strand": true,
          "transcript": "ENST00000529903.1",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 518,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3452,
          "cdna_start": 624,
          "cds_end": null,
          "cds_length": 1557,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000921289.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000591348.1",
          "strand": true,
          "transcript": "ENST00000921289.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3698,
          "cdna_start": 666,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001354853.2",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001341782.1",
          "strand": true,
          "transcript": "NM_001354853.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3257,
          "cdna_start": 424,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000414517.6",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000393202.2",
          "strand": true,
          "transcript": "ENST00000414517.6",
          "transcript_support_level": 5
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3675,
          "cdna_start": 852,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000864177.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534236.1",
          "strand": true,
          "transcript": "ENST00000864177.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3489,
          "cdna_start": 666,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000864178.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534237.1",
          "strand": true,
          "transcript": "ENST00000864178.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3481,
          "cdna_start": 658,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000864179.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534238.1",
          "strand": true,
          "transcript": "ENST00000864179.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3465,
          "cdna_start": 433,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000921287.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000591346.1",
          "strand": true,
          "transcript": "ENST00000921287.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3381,
          "cdna_start": 352,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000921288.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000591347.1",
          "strand": true,
          "transcript": "ENST00000921288.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3237,
          "cdna_start": 407,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000921290.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000591349.1",
          "strand": true,
          "transcript": "ENST00000921290.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3391,
          "cdna_start": 566,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000921291.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000591350.1",
          "strand": true,
          "transcript": "ENST00000921291.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 485,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3559,
          "cdna_start": 623,
          "cds_end": null,
          "cds_length": 1458,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000921286.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000591345.1",
          "strand": true,
          "transcript": "ENST00000921286.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 304,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1632,
          "cdna_start": 363,
          "cds_end": null,
          "cds_length": 915,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001354854.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001341783.1",
          "strand": true,
          "transcript": "NM_001354854.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 304,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1503,
          "cdna_start": 626,
          "cds_end": null,
          "cds_length": 915,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000610573.4",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000484674.1",
          "strand": true,
          "transcript": "ENST00000610573.4",
          "transcript_support_level": 5
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3831,
          "cdna_start": 799,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_047427566.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047283522.1",
          "strand": true,
          "transcript": "XM_047427566.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 7941,
          "cdna_start": 4909,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_047427567.1",
          "gene_hgnc_id": 13007,
          "gene_symbol": "ZNF215",
          "hgvs_c": "c.38_39delCTinsTC",
          "hgvs_p": "p.Pro13Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047283523.1",
          "strand": true,
          "transcript": "XM_047427567.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 517,
          "aa_ref": "P",
          "aa_start": 13,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3513,
          "cdna_start": 481,
          "cds_end": null,
          "cds_length": 1554,
          "cds_start": 38,
          "consequences": [
            "missense_variant"
          ],
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      "mitotip_prediction": null,
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      "pathogenicity_classification_combined": null,
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      "phylop100way_prediction": "Benign",
      "phylop100way_score": 1.486,
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      "transcript": "NM_013250.4"
    }
  ]
}
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.