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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: 3-188484794-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=188484794&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 188484794,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001375462.1",
      "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
          "transcript": "NM_001375462.1",
          "protein_id": "NP_001362391.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18316,
          "mane_select": "ENST00000617246.5",
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
          "transcript": "ENST00000617246.5",
          "protein_id": "ENSP00000478901.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 18316,
          "mane_select": "NM_001375462.1",
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
          "transcript": "ENST00000618621.5",
          "protein_id": "ENSP00000482617.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
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          "cdna_length": 18277,
          "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": 12,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
          "transcript": "NM_001167671.3",
          "protein_id": "NP_001161143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
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          "cdna_length": 18344,
          "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": 11,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
          "transcript": "NM_001375455.1",
          "protein_id": "NP_001362384.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 612,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 18506,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 4,
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          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
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          "transcript": "NM_001375456.1",
          "protein_id": "NP_001362385.1",
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        {
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          "gene_symbol": "LPP",
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          "hgvs_c": "c.306+90G>T",
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          "transcript": "NM_001375457.1",
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          "mane_select": null,
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        {
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          "strand": true,
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          "exon_count": 11,
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          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
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          "cdna_start": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null,
          "transcript": "XM_047448116.1",
          "protein_id": "XP_047304072.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
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          "cdna_length": 1789,
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        },
        {
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          "protein_coding": true,
          "strand": true,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.306+90G>T",
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          "transcript": "XM_017006381.1",
          "protein_id": "XP_016861870.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 415,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": null,
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          "cdna_length": 1560,
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        },
        {
          "aa_ref": null,
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          "protein_coding": true,
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.*197G>T",
          "hgvs_p": null,
          "transcript": "ENST00000426274.6",
          "protein_id": "ENSP00000397017.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": 199,
          "cdna_start": null,
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        },
        {
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
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          "gene_symbol": "LPP",
          "gene_hgnc_id": 6679,
          "hgvs_c": "c.*199G>T",
          "hgvs_p": null,
          "transcript": "ENST00000454789.5",
          "protein_id": "ENSP00000394257.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 64,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 197,
          "cdna_start": null,
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          "cdna_length": 343,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "LPP",
      "gene_hgnc_id": 6679,
      "dbsnp": "rs1559814",
      "frequency_reference_population": 0.9797727,
      "hom_count_reference_population": 445347,
      "allele_count_reference_population": 905647,
      "gnomad_exomes_af": 0.989687,
      "gnomad_genomes_af": 0.929436,
      "gnomad_exomes_ac": 764278,
      "gnomad_genomes_ac": 141369,
      "gnomad_exomes_homalt": 378831,
      "gnomad_genomes_homalt": 66516,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "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": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.54,
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001375462.1",
          "gene_symbol": "LPP",
          "hgnc_id": 6679,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.306+90G>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}