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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: 12-47214352-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47214352&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 47214352,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_138371.3",
      "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-525-1870G>C",
          "hgvs_p": null,
          "transcript": "NM_138371.3",
          "protein_id": "NP_612380.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000546455.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_138371.3"
        },
        {
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-525-1870G>C",
          "hgvs_p": null,
          "transcript": "ENST00000546455.6",
          "protein_id": "ENSP00000446688.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_138371.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000546455.6"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-57-20655G>C",
          "hgvs_p": null,
          "transcript": "NM_001281429.2",
          "protein_id": "NP_001268358.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001281429.2"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-57-20655G>C",
          "hgvs_p": null,
          "transcript": "ENST00000432328.2",
          "protein_id": "ENSP00000396040.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000432328.2"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-261-2134G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872013.1",
          "protein_id": "ENSP00000542072.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872013.1"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-262+1699G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872014.1",
          "protein_id": "ENSP00000542073.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872014.1"
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-262+1699G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872015.1",
          "protein_id": "ENSP00000542074.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872015.1"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-57-20655G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872016.1",
          "protein_id": "ENSP00000542075.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872016.1"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-261-2134G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872017.1",
          "protein_id": "ENSP00000542076.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872017.1"
        },
        {
          "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": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-57-20655G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872018.1",
          "protein_id": "ENSP00000542077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000872018.1"
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-261-2134G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872019.1",
          "protein_id": "ENSP00000542078.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872019.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
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          "gene_symbol": "PCED1B",
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          "hgvs_c": "c.-261-2134G>C",
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          "transcript": "ENST00000872020.1",
          "protein_id": "ENSP00000542079.1",
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          "aa_length": 432,
          "cds_start": null,
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          "cdna_start": null,
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        },
        {
          "aa_ref": null,
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          "consequences": [
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          "intron_rank": 5,
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          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-262+1699G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872021.1",
          "protein_id": "ENSP00000542080.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-407-2134G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872022.1",
          "protein_id": "ENSP00000542081.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          "gene_symbol": "PCED1B",
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        },
        {
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          "canonical": false,
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          "strand": true,
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          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-261-2134G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872024.1",
          "protein_id": "ENSP00000542083.1",
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          "biotype": "protein_coding",
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        {
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-261-2134G>C",
          "hgvs_p": null,
          "transcript": "ENST00000872025.1",
          "protein_id": "ENSP00000542084.1",
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        {
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          "gene_symbol": "PCED1B",
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        {
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        {
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PCED1B",
          "gene_hgnc_id": 28255,
          "hgvs_c": "c.-58+4857G>C",
          "hgvs_p": null,
          "transcript": "ENST00000929640.1",
          "protein_id": "ENSP00000599699.1",
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          "cdna_start": null,
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          "cdna_length": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.