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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: 4-150321252-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150321252&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 150321252,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001440430.1",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7569C>G",
          "hgvs_p": "p.Pro2523Pro",
          "transcript": "NM_001364905.1",
          "protein_id": "NP_001351834.1",
          "transcript_support_level": null,
          "aa_start": 2523,
          "aa_end": null,
          "aa_length": 2852,
          "cds_start": 7569,
          "cds_end": null,
          "cds_length": 8559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000651943.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001364905.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7569C>G",
          "hgvs_p": "p.Pro2523Pro",
          "transcript": "ENST00000651943.2",
          "protein_id": "ENSP00000498582.2",
          "transcript_support_level": null,
          "aa_start": 2523,
          "aa_end": null,
          "aa_length": 2852,
          "cds_start": 7569,
          "cds_end": null,
          "cds_length": 8559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001364905.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000651943.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 51,
          "exon_rank_end": null,
          "exon_count": 58,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7602C>G",
          "hgvs_p": "p.Pro2534Pro",
          "transcript": "ENST00000357115.9",
          "protein_id": "ENSP00000349629.3",
          "transcript_support_level": 1,
          "aa_start": 2534,
          "aa_end": null,
          "aa_length": 2863,
          "cds_start": 7602,
          "cds_end": null,
          "cds_length": 8592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357115.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7569C>G",
          "hgvs_p": "p.Pro2523Pro",
          "transcript": "ENST00000510413.5",
          "protein_id": "ENSP00000421552.1",
          "transcript_support_level": 1,
          "aa_start": 2523,
          "aa_end": null,
          "aa_length": 2851,
          "cds_start": 7569,
          "cds_end": null,
          "cds_length": 8556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510413.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.1287C>G",
          "hgvs_p": "p.Pro429Pro",
          "transcript": "ENST00000503716.5",
          "protein_id": "ENSP00000513123.1",
          "transcript_support_level": 1,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 1287,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000503716.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 51,
          "exon_rank_end": null,
          "exon_count": 58,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7617C>G",
          "hgvs_p": "p.Pro2539Pro",
          "transcript": "NM_001440430.1",
          "protein_id": "NP_001427359.1",
          "transcript_support_level": null,
          "aa_start": 2539,
          "aa_end": null,
          "aa_length": 2868,
          "cds_start": 7617,
          "cds_end": null,
          "cds_length": 8607,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440430.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 51,
          "exon_rank_end": null,
          "exon_count": 58,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7602C>G",
          "hgvs_p": "p.Pro2534Pro",
          "transcript": "NM_006726.5",
          "protein_id": "NP_006717.2",
          "transcript_support_level": null,
          "aa_start": 2534,
          "aa_end": null,
          "aa_length": 2863,
          "cds_start": 7602,
          "cds_end": null,
          "cds_length": 8592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006726.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 51,
          "exon_rank_end": null,
          "exon_count": 58,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7602C>G",
          "hgvs_p": "p.Pro2534Pro",
          "transcript": "ENST00000911751.1",
          "protein_id": "ENSP00000581810.1",
          "transcript_support_level": null,
          "aa_start": 2534,
          "aa_end": null,
          "aa_length": 2863,
          "cds_start": 7602,
          "cds_end": null,
          "cds_length": 8592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911751.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7584C>G",
          "hgvs_p": "p.Pro2528Pro",
          "transcript": "NM_001367550.1",
          "protein_id": "NP_001354479.1",
          "transcript_support_level": null,
          "aa_start": 2528,
          "aa_end": null,
          "aa_length": 2857,
          "cds_start": 7584,
          "cds_end": null,
          "cds_length": 8574,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367550.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7584C>G",
          "hgvs_p": "p.Pro2528Pro",
          "transcript": "NM_001440431.1",
          "protein_id": "NP_001427360.1",
          "transcript_support_level": null,
          "aa_start": 2528,
          "aa_end": null,
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          "cds_start": 7584,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": null,
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          "gene_symbol": "LRBA",
          "gene_hgnc_id": 1742,
          "hgvs_c": "c.7584C>G",
          "hgvs_p": "p.Pro2528Pro",
          "transcript": "ENST00000651695.2",
          "protein_id": "ENSP00000498254.2",
          "transcript_support_level": null,
          "aa_start": 2528,
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          "aa_length": 2857,
          "cds_start": 7584,
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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": "P",
          "aa_alt": "P",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 50,
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          "intron_rank": null,
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          "hgvs_c": "c.7584C>G",
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          "transcript": "ENST00000911750.1",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 49,
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          "intron_rank": null,
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          "gene_symbol": "LRBA",
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          "hgvs_c": "c.7584C>G",
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          "transcript": "ENST00000911753.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "LRBA",
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        {
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        {
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        {
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        {
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        {
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          ],
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          "exon_count": 18,
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          "gene_symbol": "LRBA",
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          "hgvs_c": "c.1281C>G",
          "hgvs_p": "p.Pro427Pro",
          "transcript": "NM_001440433.1",
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      "computational_score_selected": 0.5889999866485596,
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      "computational_source_selected": "REVEL",
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      "bayesdelnoaf_score": -0.6,
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          "score": 1,
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001440430.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}