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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: 2-231318878-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231318878&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 231318878,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000611582.5",
      "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "NM_001352754.2",
          "protein_id": "NP_001339683.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7879,
          "mane_select": "ENST00000611582.5",
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "ENST00000611582.5",
          "protein_id": "ENSP00000484804.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7879,
          "mane_select": "NM_001352754.2",
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "ENST00000349938.8",
          "protein_id": "ENSP00000258417.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 665,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1998,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2300,
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "NM_001271466.4",
          "protein_id": "NP_001258395.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8122,
          "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": 22,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1909-12915C>T",
          "hgvs_p": null,
          "transcript": "ENST00000683275.1",
          "protein_id": "ENSP00000506823.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2349,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1795-12915C>T",
          "hgvs_p": null,
          "transcript": "ENST00000683112.1",
          "protein_id": "ENSP00000507357.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2423,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "NM_001291656.2",
          "protein_id": "NP_001278585.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 665,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1998,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2213,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "NM_001352755.2",
          "protein_id": "NP_001339684.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 665,
          "cds_start": -4,
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          "cds_length": 1998,
          "cdna_start": null,
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          "cdna_length": 2462,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
          "hgvs_p": null,
          "transcript": "NM_001352756.2",
          "protein_id": "NP_001339685.2",
          "transcript_support_level": null,
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          "mane_select": null,
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        {
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          "strand": true,
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          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 19,
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          "gene_symbol": "ARMC9",
          "gene_hgnc_id": 20730,
          "hgvs_c": "c.1774-12915C>T",
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          "transcript": "NM_025139.6",
          "protein_id": "NP_079415.4",
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        {
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          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000611582.5",
          "gene_symbol": "ARMC9",
          "hgnc_id": 20730,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1774-12915C>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
}