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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: 3-42530054-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42530054&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 42530054,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_004624.4",
      "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
          "hgvs_p": null,
          "transcript": "NM_004624.4",
          "protein_id": "NP_004615.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000325123.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004624.4"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000325123.5",
          "protein_id": "ENSP00000327246.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004624.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000325123.5"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.667-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883021.1",
          "protein_id": "ENSP00000553080.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883021.1"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.634-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883016.1",
          "protein_id": "ENSP00000553075.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883016.1"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883017.1",
          "protein_id": "ENSP00000553076.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883017.1"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883018.1",
          "protein_id": "ENSP00000553077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883018.1"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.634-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883020.1",
          "protein_id": "ENSP00000553079.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883020.1"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.631-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883025.1",
          "protein_id": "ENSP00000553084.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883025.1"
        },
        {
          "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": 13,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.634-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883022.1",
          "protein_id": "ENSP00000553081.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883022.1"
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883023.1",
          "protein_id": "ENSP00000553082.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 443,
          "cds_start": null,
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          "cds_length": 1332,
          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883024.1",
          "protein_id": "ENSP00000553083.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 442,
          "cds_start": null,
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          "cds_length": 1329,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 6,
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          "gene_symbol": "VIPR1",
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          "transcript": "ENST00000883027.1",
          "protein_id": "ENSP00000553086.1",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "intron_rank": 6,
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          "gene_symbol": "VIPR1",
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          "hgvs_c": "c.556-725C>T",
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          "transcript": "NM_001251885.2",
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        {
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          "intron_rank": 6,
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          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
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          "transcript": "ENST00000883030.1",
          "protein_id": "ENSP00000553089.1",
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        {
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        {
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          "intron_rank": 7,
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          "gene_symbol": "VIPR1",
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          "transcript": "NM_001251882.2",
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        {
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        {
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        {
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          "intron_rank": 6,
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          "gene_symbol": "VIPR1",
          "gene_hgnc_id": 12694,
          "hgvs_c": "c.637-725C>T",
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          "transcript": "ENST00000883026.1",
          "protein_id": "ENSP00000553085.1",
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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        {
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          "gene_symbol": "VIPR1",
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        {
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          "gene_symbol": "VIPR1-AS1",
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          "biotype": "pseudogene",
          "feature": "ENST00000626234.2"
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      ],
      "gene_symbol": "VIPR1",
      "gene_hgnc_id": 12694,
      "dbsnp": "rs417387",
      "frequency_reference_population": 0.41022763,
      "hom_count_reference_population": 12880,
      "allele_count_reference_population": 61384,
      "gnomad_exomes_af": 0.337838,
      "gnomad_genomes_af": 0.410371,
      "gnomad_exomes_ac": 100,
      "gnomad_genomes_ac": 61284,
      "gnomad_exomes_homalt": 17,
      "gnomad_genomes_homalt": 12863,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.800000011920929,
      "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": -0.8,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.396,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
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            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_004624.4",
          "gene_symbol": "VIPR1",
          "hgnc_id": 12694,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.637-725C>T",
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        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000452639.7",
          "gene_symbol": "VIPR1-AS1",
          "hgnc_id": 40610,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.842+806G>A",
          "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
}