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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: 10-38095711-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=38095711&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 38095711,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000685332.1",
      "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001324250.3",
          "protein_id": "NP_001311179.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8119,
          "mane_select": "ENST00000685332.1",
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "ENST00000685332.1",
          "protein_id": "ENSP00000508865.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8119,
          "mane_select": "NM_001324250.3",
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "ENST00000351773.7",
          "protein_id": "ENSP00000329141.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 18,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PLD5P1",
          "gene_hgnc_id": 55072,
          "hgvs_c": "n.-105-33T>C",
          "hgvs_p": null,
          "transcript": "ENST00000640275.1",
          "protein_id": "ENSP00000491560.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3955,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001007094.4",
          "protein_id": "NP_001007095.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8303,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001178101.3",
          "protein_id": "NP_001171572.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7825,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001324245.3",
          "protein_id": "NP_001311174.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7754,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001324246.3",
          "protein_id": "NP_001311175.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8299,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001324247.3",
          "protein_id": "NP_001311176.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 561,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 8044,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
          "hgvs_p": null,
          "transcript": "NM_001324248.3",
          "protein_id": "NP_001311177.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "gene_symbol": "ZNF37A",
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          "hgvs_c": "c.-105-33T>C",
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        {
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          "canonical": false,
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          "gene_symbol": "ZNF37A",
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          "gene_symbol": "ZNF37A",
          "gene_hgnc_id": 13102,
          "hgvs_c": "c.-105-33T>C",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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}