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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: 8-32756368-CAA-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32756368&ref=CAA&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 32756368,
      "ref": "CAA",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000405005.8",
      "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": 8,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.804-27_804-26delAA",
          "hgvs_p": null,
          "transcript": "NM_013964.5",
          "protein_id": "NP_039258.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11983,
          "mane_select": "ENST00000405005.8",
          "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": 8,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.804-27_804-26delAA",
          "hgvs_p": null,
          "transcript": "ENST00000405005.8",
          "protein_id": "ENSP00000384620.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11983,
          "mane_select": "NM_013964.5",
          "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": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.819-27_819-26delAA",
          "hgvs_p": null,
          "transcript": "ENST00000287842.7",
          "protein_id": "ENSP00000287842.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 645,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1938,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2035,
          "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": 8,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.795-27_795-26delAA",
          "hgvs_p": null,
          "transcript": "ENST00000356819.7",
          "protein_id": "ENSP00000349275.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5931,
          "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": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.804-27_804-26delAA",
          "hgvs_p": null,
          "transcript": "ENST00000521670.5",
          "protein_id": "ENSP00000428828.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1769,
          "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": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.1023-27_1023-26delAA",
          "hgvs_p": null,
          "transcript": "ENST00000523534.5",
          "protein_id": "ENSP00000429067.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 713,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2142,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2516,
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.984-27_984-26delAA",
          "hgvs_p": null,
          "transcript": "NM_001322205.2",
          "protein_id": "NP_001309134.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 700,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2103,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12376,
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.984-27_984-26delAA",
          "hgvs_p": null,
          "transcript": "ENST00000652592.1",
          "protein_id": "ENSP00000498646.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 700,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2103,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6346,
          "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": 13,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.819-27_819-26delAA",
          "hgvs_p": null,
          "transcript": "NM_013956.5",
          "protein_id": "NP_039250.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 1938,
          "cdna_start": null,
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          "cdna_length": 11998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "NRG1",
          "gene_hgnc_id": 7997,
          "hgvs_c": "c.795-27_795-26delAA",
          "hgvs_p": null,
          "transcript": "NM_013957.5",
          "protein_id": "NP_039251.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 637,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "intron_rank": 9,
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          "gene_symbol": "NRG1",
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          "hgvs_c": "c.756-27_756-26delAA",
          "hgvs_p": null,
          "transcript": "NM_001159999.3",
          "protein_id": "NP_001153471.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 1875,
          "cdna_start": null,
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          "cdna_length": 11669,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 13,
          "intron_rank": 9,
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          "gene_symbol": "NRG1",
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          "hgvs_c": "c.756-27_756-26delAA",
          "hgvs_p": null,
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        {
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        {
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000405005.8",
          "gene_symbol": "NRG1",
          "hgnc_id": 7997,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.804-27_804-26delAA",
          "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
}