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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: 19-58255802-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58255802&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 58255802,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001387410.1",
      "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_014480.4",
          "protein_id": "NP_055295.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3302,
          "mane_select": "ENST00000687789.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014480.4"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000687789.1",
          "protein_id": "ENSP00000510489.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3302,
          "mane_select": "NM_014480.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000687789.1"
        },
        {
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000269829.5",
          "protein_id": "ENSP00000269829.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000269829.5"
        },
        {
          "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": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000596652.5",
          "protein_id": "ENSP00000469635.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000596652.5"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.210-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000594384.5",
          "protein_id": "ENSP00000472614.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 75,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 228,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 588,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000594384.5"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.210-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000596825.5",
          "protein_id": "ENSP00000472512.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 75,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 228,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000596825.5"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.210-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000599227.5",
          "protein_id": "ENSP00000471480.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 75,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 228,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000599227.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000283515",
          "gene_hgnc_id": null,
          "hgvs_c": "n.209+9008T>C",
          "hgvs_p": null,
          "transcript": "ENST00000637233.1",
          "protein_id": "ENSP00000490395.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3042,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000637233.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.407-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_001387410.1",
          "protein_id": "NP_001374339.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 769,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2310,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3648,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387410.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.407-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_001387413.1",
          "protein_id": "NP_001374342.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 769,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2310,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387413.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_001320767.2",
          "protein_id": "NP_001307696.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 715,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2148,
          "cdna_start": null,
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          "cdna_length": 3337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320767.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_001320769.2",
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          "aa_length": 715,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001320769.2"
        },
        {
          "aa_ref": null,
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          "strand": true,
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          "intron_rank": 5,
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          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_001387390.1",
          "protein_id": "NP_001374319.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          ],
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          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "NM_001387391.1",
          "protein_id": "NP_001374320.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "ZNF544",
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          "protein_id": "NP_001374321.1",
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          "mane_select": null,
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          "feature": "NM_001387392.1"
        },
        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000853338.1",
          "protein_id": "ENSP00000523397.1",
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        {
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          "exon_count": 7,
          "intron_rank": 6,
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          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
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          "transcript": "ENST00000853339.1",
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        {
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          "gene_symbol": "ZNF544",
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          "transcript": "ENST00000853341.1",
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        {
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        },
        {
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ZNF544",
          "gene_hgnc_id": 16759,
          "hgvs_c": "c.245-5049T>C",
          "hgvs_p": null,
          "transcript": "ENST00000914894.1",
          "protein_id": "ENSP00000584953.1",
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          "aa_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000914894.1"
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "inheritance_mode": "AR",
          "hgvs_c": "c.407-5049T>C",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000637233.1",
          "gene_symbol": "ENSG00000283515",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.209+9008T>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
}
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