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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: 10-87050332-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87050332&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 87050332,
      "ref": "A",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_005271.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_005271.5",
          "protein_id": "NP_005262.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000277865.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005271.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "ENST00000277865.5",
          "protein_id": "ENSP00000277865.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005271.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000277865.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_001318900.1",
          "protein_id": "NP_001305829.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1278,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318900.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_001318901.1",
          "protein_id": "NP_001305830.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318901.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_001318902.1",
          "protein_id": "NP_001305831.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318902.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_001318904.2",
          "protein_id": "NP_001305833.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318904.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_001318905.2",
          "protein_id": "NP_001305834.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318905.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "NM_001318906.2",
          "protein_id": "NP_001305835.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318906.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "XM_047425099.1",
          "protein_id": "XP_047281055.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 391,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1176,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047425099.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "XM_047425100.1",
          "protein_id": "XP_047281056.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 391,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "strand": true,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "GLUD1",
          "gene_hgnc_id": 4335,
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null,
          "transcript": "ENST00000915201.1",
          "protein_id": "ENSP00000585260.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 574,
          "cds_start": null,
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          "cds_length": 1725,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "intron_rank": null,
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          "gene_symbol": "GLUD1",
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          "cds_start": null,
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        {
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        {
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          "gene_symbol": "GLUD1",
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        {
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        {
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          "gene_symbol": "GLUD1",
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        {
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        {
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          ],
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      "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": -0.86,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.755,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_005271.5",
          "gene_symbol": "GLUD1",
          "hgnc_id": 4335,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.*1419T>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Hyperinsulinism-hyperammonemia syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}