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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: 9-76703958-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=76703958&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 76703958,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_015225.3",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "NM_015225.3",
          "protein_id": "NP_056040.2",
          "transcript_support_level": null,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3088,
          "cds_start": 7655,
          "cds_end": null,
          "cds_length": 9267,
          "cdna_start": 7806,
          "cdna_end": null,
          "cdna_length": 12612,
          "mane_select": "ENST00000376718.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "ENST00000376718.8",
          "protein_id": "ENSP00000365908.3",
          "transcript_support_level": 5,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3088,
          "cds_start": 7655,
          "cds_end": null,
          "cds_length": 9267,
          "cdna_start": 7806,
          "cdna_end": null,
          "cdna_length": 12612,
          "mane_select": "NM_015225.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "NM_001308048.2",
          "protein_id": "NP_001294977.1",
          "transcript_support_level": null,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3063,
          "cds_start": 7655,
          "cds_end": null,
          "cds_length": 9192,
          "cdna_start": 7806,
          "cdna_end": null,
          "cdna_length": 12537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "NM_001308047.2",
          "protein_id": "NP_001294976.1",
          "transcript_support_level": null,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3062,
          "cds_start": 7655,
          "cds_end": null,
          "cds_length": 9189,
          "cdna_start": 7806,
          "cdna_end": null,
          "cdna_length": 12534,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "ENST00000443509.6",
          "protein_id": "ENSP00000393843.3",
          "transcript_support_level": 5,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3062,
          "cds_start": 7655,
          "cds_end": null,
          "cds_length": 9189,
          "cdna_start": 7733,
          "cdna_end": null,
          "cdna_length": 12356,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.6578T>G",
          "hgvs_p": "p.Leu2193Arg",
          "transcript": "ENST00000428286.5",
          "protein_id": "ENSP00000397425.1",
          "transcript_support_level": 5,
          "aa_start": 2193,
          "aa_end": null,
          "aa_length": 2730,
          "cds_start": 6578,
          "cds_end": null,
          "cds_length": 8193,
          "cdna_start": 7733,
          "cdna_end": null,
          "cdna_length": 12437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.5618T>G",
          "hgvs_p": "p.Leu1873Arg",
          "transcript": "ENST00000426088.5",
          "protein_id": "ENSP00000389706.1",
          "transcript_support_level": 5,
          "aa_start": 1873,
          "aa_end": null,
          "aa_length": 2383,
          "cds_start": 5618,
          "cds_end": null,
          "cds_length": 7152,
          "cdna_start": 5619,
          "cdna_end": null,
          "cdna_length": 7434,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "XM_006716982.2",
          "protein_id": "XP_006717045.1",
          "transcript_support_level": null,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3104,
          "cds_start": 7655,
          "cds_end": null,
          "cds_length": 9315,
          "cdna_start": 7806,
          "cdna_end": null,
          "cdna_length": 12660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "XM_006716983.2",
          "protein_id": "XP_006717046.1",
          "transcript_support_level": null,
          "aa_start": 2552,
          "aa_end": null,
          "aa_length": 3103,
          "cds_start": 7655,
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          "cdna_start": 7806,
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          "cdna_length": 12657,
          "mane_select": null,
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        },
        {
          "aa_ref": "L",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRUNE2",
          "gene_hgnc_id": 25209,
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg",
          "transcript": "XM_006716984.3",
          "protein_id": "XP_006717047.1",
          "transcript_support_level": null,
          "aa_start": 2552,
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          "intron_rank": null,
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          "gene_symbol": "PRUNE2",
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          "hgvs_c": "c.7655T>G",
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          "cds_start": 7655,
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          "intron_rank": null,
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          "transcript": "ENST00000646947.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "PRUNE2",
      "gene_hgnc_id": 25209,
      "dbsnp": "rs373284279",
      "frequency_reference_population": 0.00008365245,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 135,
      "gnomad_exomes_af": 0.0000841509,
      "gnomad_genomes_af": 0.0000788644,
      "gnomad_exomes_ac": 123,
      "gnomad_genomes_ac": 12,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7221710681915283,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.311,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.2137,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.2,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.399,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_015225.3",
          "gene_symbol": "PRUNE2",
          "hgnc_id": 25209,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.7655T>G",
          "hgvs_p": "p.Leu2552Arg"
        },
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000645196.1",
          "gene_symbol": "PCA3",
          "hgnc_id": 8637,
          "effects": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1042A>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}