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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: 7-14848793-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=14848793&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 14848793,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000402815.6",
      "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "NM_001350709.2",
          "protein_id": "NP_001337638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 803,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2412,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6841,
          "mane_select": "ENST00000402815.6",
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "ENST00000402815.6",
          "protein_id": "ENSP00000384909.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 803,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2412,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6841,
          "mane_select": "NM_001350709.2",
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "NM_001350705.1",
          "protein_id": "NP_001337634.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7212,
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "NM_001350706.2",
          "protein_id": "NP_001337635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6844,
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "ENST00000403951.6",
          "protein_id": "ENSP00000385780.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6917,
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "NM_001350707.2",
          "protein_id": "NP_001337636.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 803,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6844,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "NM_001350708.1",
          "protein_id": "NP_001337637.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 803,
          "cds_start": -4,
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          "cds_length": 2412,
          "cdna_start": null,
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          "cdna_length": 7209,
          "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,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "DGKB",
          "gene_hgnc_id": 2850,
          "hgvs_c": "c.-187-7343G>C",
          "hgvs_p": null,
          "transcript": "NM_001350715.1",
          "protein_id": "NP_001337644.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 797,
          "cds_start": -4,
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          "cds_length": 2394,
          "cdna_start": null,
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          "cdna_length": 7191,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "DGKB",
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          "transcript": "NM_001350716.2",
          "protein_id": "NP_001337645.1",
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        {
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          "gene_symbol": "DGKB",
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          "hgvs_c": "c.-187-7343G>C",
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      "clinvar_classification": "",
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  "message": null
}