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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: 4-10103046-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10103046&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 10103046,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_017491.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "NM_017491.5",
          "protein_id": "NP_059830.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000499869.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017491.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000499869.7",
          "protein_id": "ENSP00000427687.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_017491.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000499869.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000699794.1",
          "protein_id": "ENSP00000514596.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000699794.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000867002.1",
          "protein_id": "ENSP00000537061.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867002.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000918694.1",
          "protein_id": "ENSP00000588753.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918694.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000950909.1",
          "protein_id": "ENSP00000620968.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950909.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000950911.1",
          "protein_id": "ENSP00000620970.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1806,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950911.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000867001.1",
          "protein_id": "ENSP00000537060.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867001.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000699797.1",
          "protein_id": "ENSP00000514600.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 579,
          "cds_start": null,
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          "cds_length": 1740,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000699797.1"
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
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          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "c.229+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000699796.1",
          "protein_id": "ENSP00000514599.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "WDR1",
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          "hgvs_c": "c.229+850T>A",
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          "transcript": "ENST00000918696.1",
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          "aa_length": 548,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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        {
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          "gene_symbol": "WDR1",
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          "hgvs_c": "c.138+13067T>A",
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        {
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          "gene_symbol": "WDR1",
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        {
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          "gene_symbol": "WDR1",
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        {
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        {
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WDR1",
          "gene_hgnc_id": 12754,
          "hgvs_c": "n.387+850T>A",
          "hgvs_p": null,
          "transcript": "ENST00000505851.5",
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          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000505851.5"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 4,
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      "gene_symbol": "WDR1",
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      "dbsnp": "rs717615",
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      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.12,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
      "apogee2_prediction": null,
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      "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"
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          "verdict": "Likely_benign",
          "transcript": "NM_017491.5",
          "gene_symbol": "WDR1",
          "hgnc_id": 12754,
          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "c.229+850T>A",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}