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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: 11-118618067-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118618067&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 118618067,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_015157.4",
      "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "NM_001144758.3",
          "protein_id": "NP_001138230.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000600882.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001144758.3"
        },
        {
          "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000600882.6",
          "protein_id": "ENSP00000469820.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001144758.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000600882.6"
        },
        {
          "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": 24,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000361417.6",
          "protein_id": "ENSP00000354498.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361417.6"
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860962.1",
          "protein_id": "ENSP00000531021.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1482,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860962.1"
        },
        {
          "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": 24,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860972.1",
          "protein_id": "ENSP00000531031.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1471,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860972.1"
        },
        {
          "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": 24,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860971.1",
          "protein_id": "ENSP00000531030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1458,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860971.1"
        },
        {
          "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": 25,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860958.1",
          "protein_id": "ENSP00000531017.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1434,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860958.1"
        },
        {
          "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": 24,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860961.1",
          "protein_id": "ENSP00000531020.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1434,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4305,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860961.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860959.1",
          "protein_id": "ENSP00000531018.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1433,
          "cds_start": null,
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          "cds_length": 4302,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000860959.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 24,
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          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860974.1",
          "protein_id": "ENSP00000531033.1",
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          "aa_start": null,
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          "cds_start": null,
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          "gene_symbol": "PHLDB1",
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          "hgvs_c": "c.355+1856A>C",
          "hgvs_p": null,
          "transcript": "ENST00000860984.1",
          "protein_id": "ENSP00000531043.1",
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          "aa_start": null,
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          "cds_start": null,
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        {
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          "transcript": "NM_015157.4",
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      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_015157.4",
          "gene_symbol": "PHLDB1",
          "hgnc_id": 23697,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.355+1856A>C",
          "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
}