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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: 14-88575836-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88575836&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 88575836,
      "ref": "T",
      "alt": "A",
      "effect": "splice_region_variant,intron_variant",
      "transcript": "ENST00000251038.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_024824.5",
          "protein_id": "NP_079100.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18153,
          "mane_select": "ENST00000251038.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000251038.10",
          "protein_id": "ENSP00000251038.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18153,
          "mane_select": "NM_024824.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.768-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000556000.5",
          "protein_id": "ENSP00000451054.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2092,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000302216.12",
          "protein_id": "ENSP00000307025.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2560,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.921-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000336693.8",
          "protein_id": "ENSP00000338002.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 571,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1716,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2007,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001160103.2",
          "protein_id": "NP_001153575.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18150,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326310.2",
          "protein_id": "NP_001313239.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001160104.2",
          "protein_id": "NP_001153576.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000555755.5",
          "protein_id": "ENSP00000452475.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2529,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326307.2",
          "protein_id": "NP_001313236.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": null,
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          "cdna_length": 18078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000393514.9",
          "protein_id": "ENSP00000377150.5",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": -4,
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          "cds_length": 2136,
          "cdna_start": null,
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          "cdna_length": 2195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 7,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326296.2",
          "protein_id": "NP_001313225.1",
          "transcript_support_level": null,
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          "aa_length": 710,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 18075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 7,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
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          "transcript": "NM_001326312.2",
          "protein_id": "NP_001313241.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 18063,
          "mane_select": null,
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          "biotype": null,
          "feature": null
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326299.2",
          "protein_id": "NP_001313228.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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        {
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            "intron_variant"
          ],
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          "gene_symbol": "ZC3H14",
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          "hgvs_c": "c.921-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326297.2",
          "protein_id": "NP_001313226.1",
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          "cdna_length": 18334,
          "mane_select": null,
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          "feature": null
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 7,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.921-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326315.2",
          "protein_id": "NP_001313244.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 18331,
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        {
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          "canonical": false,
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          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.921-4T>A",
          "hgvs_p": null,
          "transcript": "NM_001326316.2",
          "protein_id": "NP_001313245.1",
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        {
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          ],
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          "intron_rank": 7,
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.921-4T>A",
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          "transcript": "NM_001326301.2",
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        {
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          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
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          "transcript": "NM_001326295.2",
          "protein_id": "NP_001313224.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZC3H14",
          "gene_hgnc_id": 20509,
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null,
          "transcript": "ENST00000556945.5",
          "protein_id": "ENSP00000450474.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2075,
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          "biotype": null,
          "feature": null
        },
        {
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      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7400000095367432,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.03200000151991844,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.74,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.042,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.0013002842876958,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "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": "ENST00000251038.10",
          "gene_symbol": "ZC3H14",
          "hgnc_id": 20509,
          "effects": [
            "splice_region_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.1023-4T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}