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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: 11-125592740-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125592740&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 125592740,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000527606.5",
      "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+853C>G",
          "hgvs_p": null,
          "transcript": "ENST00000527606.5",
          "protein_id": "ENSP00000436558.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 118,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 358,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000527606.5"
        },
        {
          "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": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-252+853C>G",
          "hgvs_p": null,
          "transcript": "XM_047426897.1",
          "protein_id": "XP_047282853.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047426897.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-214C>G",
          "hgvs_p": null,
          "transcript": "NM_152713.5",
          "protein_id": "NP_689926.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000392708.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_152713.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-214C>G",
          "hgvs_p": null,
          "transcript": "ENST00000392708.9",
          "protein_id": "ENSP00000376472.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_152713.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392708.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-302C>G",
          "hgvs_p": null,
          "transcript": "ENST00000529196.5",
          "protein_id": "ENSP00000436962.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000529196.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "n.-79C>G",
          "hgvs_p": null,
          "transcript": "ENST00000534472.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000534472.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-214C>G",
          "hgvs_p": null,
          "transcript": "ENST00000905688.1",
          "protein_id": "ENSP00000575747.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 708,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2127,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905688.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-302C>G",
          "hgvs_p": null,
          "transcript": "NM_001278503.2",
          "protein_id": "NP_001265432.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278503.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-262C>G",
          "hgvs_p": null,
          "transcript": "ENST00000649491.1",
          "protein_id": "ENSP00000497336.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649491.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-258C>G",
          "hgvs_p": null,
          "transcript": "ENST00000905686.1",
          "protein_id": "ENSP00000575745.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905686.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-254C>G",
          "hgvs_p": null,
          "transcript": "ENST00000905689.1",
          "protein_id": "ENSP00000575748.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905689.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-342C>G",
          "hgvs_p": null,
          "transcript": "ENST00000905690.1",
          "protein_id": "ENSP00000575749.1",
          "transcript_support_level": null,
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          "aa_length": 705,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-390C>G",
          "hgvs_p": null,
          "transcript": "ENST00000905691.1",
          "protein_id": "ENSP00000575750.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-365C>G",
          "hgvs_p": null,
          "transcript": "ENST00000936150.1",
          "protein_id": "ENSP00000606209.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 705,
          "cds_start": null,
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
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          "biotype": "protein_coding",
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        },
        {
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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": 19,
          "intron_rank": null,
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          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-302C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960420.1",
          "protein_id": "ENSP00000630479.1",
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-214C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960417.1",
          "protein_id": "ENSP00000630476.1",
          "transcript_support_level": null,
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          "aa_length": 703,
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "STT3A",
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        {
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          ],
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "STT3A",
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-214C>G",
          "hgvs_p": null,
          "transcript": "ENST00000960416.1",
          "protein_id": "ENSP00000630475.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 701,
          "cds_start": null,
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          "cds_length": 2106,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000960416.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
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