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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: 3-15039189-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15039189&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 15039189,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000425241.6",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1578G>A",
          "hgvs_p": "p.Gln526Gln",
          "transcript": "NM_001291694.2",
          "protein_id": "NP_001278623.1",
          "transcript_support_level": null,
          "aa_start": 526,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1578,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": 1941,
          "cdna_end": null,
          "cdna_length": 8419,
          "mane_select": "ENST00000425241.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1578G>A",
          "hgvs_p": "p.Gln526Gln",
          "transcript": "ENST00000425241.6",
          "protein_id": "ENSP00000388387.1",
          "transcript_support_level": 2,
          "aa_start": 526,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1578,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": 1941,
          "cdna_end": null,
          "cdna_length": 8419,
          "mane_select": "NM_001291694.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1635G>A",
          "hgvs_p": "p.Gln545Gln",
          "transcript": "ENST00000323373.10",
          "protein_id": "ENSP00000320447.6",
          "transcript_support_level": 1,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1635,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1852,
          "cdna_end": null,
          "cdna_length": 2406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1635G>A",
          "hgvs_p": "p.Gln545Gln",
          "transcript": "ENST00000617312.4",
          "protein_id": "ENSP00000483059.1",
          "transcript_support_level": 1,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1635,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1635,
          "cdna_end": null,
          "cdna_length": 8113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1578G>A",
          "hgvs_p": "p.Gln526Gln",
          "transcript": "ENST00000406272.6",
          "protein_id": "ENSP00000384463.2",
          "transcript_support_level": 1,
          "aa_start": 526,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1578,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": 1578,
          "cdna_end": null,
          "cdna_length": 1791,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1635G>A",
          "hgvs_p": "p.Gln545Gln",
          "transcript": "NM_003298.5",
          "protein_id": "NP_003289.2",
          "transcript_support_level": null,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1635,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 1998,
          "cdna_end": null,
          "cdna_length": 8476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1578G>A",
          "hgvs_p": "p.Gln526Gln",
          "transcript": "ENST00000393102.7",
          "protein_id": "ENSP00000376814.3",
          "transcript_support_level": 5,
          "aa_start": 526,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1578,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": 1703,
          "cdna_end": null,
          "cdna_length": 1937,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.420G>A",
          "hgvs_p": "p.Gln140Gln",
          "transcript": "ENST00000439011.5",
          "protein_id": "ENSP00000412473.1",
          "transcript_support_level": 3,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 222,
          "cds_start": 420,
          "cds_end": null,
          "cds_length": 669,
          "cdna_start": 420,
          "cdna_end": null,
          "cdna_length": 698,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.363G>A",
          "hgvs_p": "p.Gln121Gln",
          "transcript": "ENST00000413194.1",
          "protein_id": "ENSP00000413438.1",
          "transcript_support_level": 3,
          "aa_start": 121,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 363,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 551,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1734G>A",
          "hgvs_p": "p.Gln578Gln",
          "transcript": "XM_011534058.4",
          "protein_id": "XP_011532360.1",
          "transcript_support_level": null,
          "aa_start": 578,
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          "aa_length": 648,
          "cds_start": 1734,
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          "cds_length": 1947,
          "cdna_start": 2228,
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          "cdna_length": 8706,
          "mane_select": null,
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        {
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          ],
          "exon_rank": 17,
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          "intron_rank": null,
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          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.1734G>A",
          "hgvs_p": "p.Gln578Gln",
          "transcript": "XM_011534059.3",
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          "cdna_start": 2997,
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        {
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          "protein_coding": true,
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          "consequences": [
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          "intron_rank": null,
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        {
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          "exon_rank": 17,
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          "gene_symbol": "NR2C2",
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        {
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          "hgvs_c": "c.1734G>A",
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          "transcript": "XM_047448825.1",
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        {
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        {
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          "gene_symbol": "NR2C2",
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          "hgvs_c": "c.1734G>A",
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        {
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        {
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          "gene_symbol": "NR2C2",
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          "hgvs_c": "c.1677G>A",
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          "transcript": "XM_047448830.1",
          "protein_id": "XP_047304786.1",
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        {
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          ],
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          "cdna_end": null,
          "cdna_length": 3567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NR2C2",
      "gene_hgnc_id": 7972,
      "dbsnp": "rs2230444",
      "frequency_reference_population": 0.08310033,
      "hom_count_reference_population": 6219,
      "allele_count_reference_population": 134097,
      "gnomad_exomes_af": 0.084286,
      "gnomad_genomes_af": 0.071713,
      "gnomad_exomes_ac": 123184,
      "gnomad_genomes_ac": 10913,
      "gnomad_exomes_homalt": 5787,
      "gnomad_genomes_homalt": 432,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6100000143051147,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.61,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.412,
      "phylop100way_prediction": "Benign",
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000425241.6",
          "gene_symbol": "NR2C2",
          "hgnc_id": 7972,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1578G>A",
          "hgvs_p": "p.Gln526Gln"
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000695376.1",
          "gene_symbol": "MRPS25",
          "hgnc_id": 14511,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "n.*2733+10519C>T",
          "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
}