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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: 11-125593855-GTGT-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125593855&ref=GTGT&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 125593855,
      "ref": "GTGT",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_152713.5",
      "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+948_-36+950delGTT",
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+938_-36+940delTGT",
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+131_-36+133delTGT",
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "n.100+938_100+940delTGT",
          "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": [
            "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.-36+938_-36+940delTGT",
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+141_-36+143delGTT",
          "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": [
            "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.-83-194_-83-192delTGT",
          "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": [
            "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.-79-198_-79-196delTGT",
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+898_-36+900delTGT",
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+131_-36+133delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000905690.1",
          "protein_id": "ENSP00000575749.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
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          "cds_length": 2118,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905690.1"
        },
        {
          "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": 20,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-84+131_-84+133delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000905691.1",
          "protein_id": "ENSP00000575750.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": null,
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          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905691.1"
        },
        {
          "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": 18,
          "intron_rank": 1,
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          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+737_-36+739delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000905694.1",
          "protein_id": "ENSP00000575753.1",
          "transcript_support_level": null,
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          "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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        },
        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+131_-36+133delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000905695.1",
          "protein_id": "ENSP00000575754.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
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          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+428_-36+430delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000905696.1",
          "protein_id": "ENSP00000575755.1",
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        {
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          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-187+938_-187+940delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000936150.1",
          "protein_id": "ENSP00000606209.1",
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+742_-36+744delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000936152.1",
          "protein_id": "ENSP00000606211.1",
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        {
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_count": 20,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-84+131_-84+133delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000936153.1",
          "protein_id": "ENSP00000606212.1",
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        {
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          "gene_symbol": "STT3A",
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          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+938_-36+940delTGT",
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          "transcript": "ENST00000960417.1",
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          "biotype": "protein_coding",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STT3A",
          "gene_hgnc_id": 6172,
          "hgvs_c": "c.-36+938_-36+940delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000960418.1",
          "protein_id": "ENSP00000630477.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
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        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}