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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: 14-50980053-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50980053&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 50980053,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000684578.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2163-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387360.1",
          "protein_id": "NP_001374289.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4579,
          "mane_select": "ENST00000684578.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2163-504A>C",
          "hgvs_p": null,
          "transcript": "ENST00000684578.1",
          "protein_id": "ENSP00000507131.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4579,
          "mane_select": "NM_001387360.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.1908-504A>C",
          "hgvs_p": null,
          "transcript": "ENST00000298355.7",
          "protein_id": "ENSP00000298355.3",
          "transcript_support_level": 1,
          "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": 5284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2151-504A>C",
          "hgvs_p": null,
          "transcript": "ENST00000338969.9",
          "protein_id": "ENSP00000342970.5",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2151-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387361.1",
          "protein_id": "NP_001374290.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 791,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2376,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2139-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387362.1",
          "protein_id": "NP_001374291.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 787,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4555,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2127-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387363.1",
          "protein_id": "NP_001374292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 783,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2352,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4543,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2121-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387364.1",
          "protein_id": "NP_001374293.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 781,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2346,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2109-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387365.1",
          "protein_id": "NP_001374294.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": -4,
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          "cds_length": 2334,
          "cdna_start": null,
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          "cdna_length": 4525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2097-504A>C",
          "hgvs_p": null,
          "transcript": "NM_001387366.1",
          "protein_id": "NP_001374295.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 11,
          "intron_rank": 9,
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          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.2085-504A>C",
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          "transcript_support_level": null,
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          "aa_length": 769,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
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          "exon_count": 12,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
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        {
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          "intron_rank": 9,
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          "gene_symbol": "TRIM9",
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          "gene_symbol": "TRIM9",
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          "hgvs_c": "c.1932-504A>C",
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        {
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          "gene_symbol": "TRIM9",
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        {
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          "gene_symbol": "TRIM9",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "TRIM9",
          "gene_hgnc_id": 16288,
          "hgvs_c": "c.1557-504A>C",
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          "transcript": "NM_001387376.1",
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