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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: 6-154092539-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154092539&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 154092539,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000330432.12",
      "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "NM_000914.5",
          "protein_id": "NP_000905.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 15143,
          "mane_select": "ENST00000330432.12",
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000330432.12",
          "protein_id": "ENSP00000328264.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 15143,
          "mane_select": "NM_000914.5",
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1443+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000434900.6",
          "protein_id": "ENSP00000394624.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2033,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1165-731C>T",
          "hgvs_p": null,
          "transcript": "ENST00000229768.9",
          "protein_id": "ENSP00000229768.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1465,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000419506.6",
          "protein_id": "ENSP00000403549.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1402,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000337049.8",
          "protein_id": "ENSP00000338381.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 418,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1257,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1389,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000452687.6",
          "protein_id": "ENSP00000410497.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1352,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000414028.6",
          "protein_id": "ENSP00000399359.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2485,
          "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,
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          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000435918.6",
          "protein_id": "ENSP00000413752.2",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": 397,
          "cds_start": -4,
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          "cds_length": 1194,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "OPRM1",
          "gene_hgnc_id": 8156,
          "hgvs_c": "c.1164+1067C>T",
          "hgvs_p": null,
          "transcript": "ENST00000524163.5",
          "protein_id": "ENSP00000430097.1",
          "transcript_support_level": 1,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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      "computational_prediction_selected": "Benign",
      "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": -0.82,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.321,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000330432.12",
          "gene_symbol": "OPRM1",
          "hgnc_id": 8156,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1164+1067C>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
}