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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: 14-88571137-AC-AC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88571137&ref=AC&alt=AC&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "ZC3H14",
          "hgnc_id": 20509,
          "hgvs_c": "c.",
          "hgvs_p": null,
          "inheritance_mode": "AR,AD",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "ENST00000251038.10",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "C",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "14",
      "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": null,
          "aa_end": null,
          "aa_length": 736,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 18153,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2211,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000251038.10",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_024824.5",
          "protein_coding": true,
          "protein_id": "ENSP00000251038.5",
          "strand": true,
          "transcript": "ENST00000251038.10",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 579,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2560,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1740,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000302216.12",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000307025.8",
          "strand": true,
          "transcript": "ENST00000302216.12",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 571,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2007,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1716,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000336693.8",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000338002.4",
          "strand": true,
          "transcript": "ENST00000336693.8",
          "transcript_support_level": 1
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 731,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4085,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2196,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888720.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558779.1",
          "strand": true,
          "transcript": "ENST00000888720.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 730,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2529,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2193,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000555755.5",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000452475.1",
          "strand": true,
          "transcript": "ENST00000555755.5",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 725,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4077,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2178,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888717.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558776.1",
          "strand": true,
          "transcript": "ENST00000888717.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 724,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3515,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2175,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888729.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558788.1",
          "strand": true,
          "transcript": "ENST00000888729.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 720,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3558,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2163,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888723.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558782.1",
          "strand": true,
          "transcript": "ENST00000888723.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 719,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2369,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2160,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971949.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000642008.1",
          "strand": true,
          "transcript": "ENST00000971949.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 712,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3955,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2139,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 17,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000971947.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000642006.1",
          "strand": true,
          "transcript": "ENST00000971947.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 711,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2195,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2136,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000393514.9",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000377150.5",
          "strand": true,
          "transcript": "ENST00000393514.9",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 710,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4044,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2133,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888716.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558775.1",
          "strand": true,
          "transcript": "ENST00000888716.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 706,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5972,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2121,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888713.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558772.1",
          "strand": true,
          "transcript": "ENST00000888713.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 705,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4012,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
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          "feature": "ENST00000888719.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558778.1",
          "strand": true,
          "transcript": "ENST00000888719.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 700,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2380,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2103,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888730.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558789.1",
          "strand": true,
          "transcript": "ENST00000888730.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 699,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3480,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2100,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888724.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558783.1",
          "strand": true,
          "transcript": "ENST00000888724.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 684,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3406,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2055,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888728.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558787.1",
          "strand": true,
          "transcript": "ENST00000888728.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_length": 683,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3415,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2052,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888725.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558784.1",
          "strand": true,
          "transcript": "ENST00000888725.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 679,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3391,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 2040,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 16,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000888727.1",
          "gene_hgnc_id": 20509,
          "gene_symbol": "ZC3H14",
          "hgvs_c": "c.",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000558786.1",
          "strand": true,
          "transcript": "ENST00000888727.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 659,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3310,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 1980,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 15,
          "exon_rank": null,
          "exon_rank_end": null,
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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.