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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: 10-132098428-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132098428&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 132098428,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000684848.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "NM_001323087.2",
          "protein_id": "NP_001310016.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 846,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2541,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6399,
          "mane_select": "ENST00000684848.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "ENST00000684848.1",
          "protein_id": "ENSP00000508932.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 846,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2541,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6399,
          "mane_select": "NM_001323087.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "NM_001323086.2",
          "protein_id": "NP_001310015.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 990,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2973,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6368,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "ENST00000666210.1",
          "protein_id": "ENSP00000499222.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 990,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2973,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6285,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "NM_001392039.1",
          "protein_id": "NP_001378968.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6914,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "NM_001392040.1",
          "protein_id": "NP_001378969.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 851,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6414,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 1,
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          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "NM_001392041.1",
          "protein_id": "NP_001378970.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 846,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 7405,
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "JAKMIP3",
          "gene_hgnc_id": 23523,
          "hgvs_c": "c.-137-6244T>C",
          "hgvs_p": null,
          "transcript": "NM_001392042.1",
          "protein_id": "NP_001378971.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          ],
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          "gene_symbol": "JAKMIP3",
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          "hgvs_c": "c.-137-6244T>C",
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          "transcript": "ENST00000657785.1",
          "protein_id": "ENSP00000499291.1",
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        {
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          "gene_symbol": "JAKMIP3",
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          "transcript": "ENST00000666974.1",
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3020,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "JAKMIP3",
      "gene_hgnc_id": 23523,
      "dbsnp": "rs9419187",
      "frequency_reference_population": 0.61256677,
      "hom_count_reference_population": 28786,
      "allele_count_reference_population": 93142,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.612567,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 93142,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 28786,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9599999785423279,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.96,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.405,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000684848.1",
          "gene_symbol": "JAKMIP3",
          "hgnc_id": 23523,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-137-6244T>C",
          "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
}