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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: 15-29709124-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29709124&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TJP1",
"hgnc_id": 11827,
"hgvs_c": "c.4652-88G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001301025.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 143568,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1768,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7190,
"cdna_start": null,
"cds_end": null,
"cds_length": 5307,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330239.4",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4373-88G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000614355.5",
"protein_coding": true,
"protein_id": "NP_001317168.1",
"strand": false,
"transcript": "NM_001330239.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1768,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7190,
"cdna_start": null,
"cds_end": null,
"cds_length": 5307,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614355.5",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4373-88G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330239.4",
"protein_coding": true,
"protein_id": "ENSP00000483470.2",
"strand": false,
"transcript": "ENST00000614355.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1748,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7950,
"cdna_start": null,
"cds_end": null,
"cds_length": 5247,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346128.10",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4373-88G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000281537.7",
"strand": false,
"transcript": "ENST00000346128.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1692,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6764,
"cdna_start": null,
"cds_end": null,
"cds_length": 5079,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400011.6",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4145-88G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382890.2",
"strand": false,
"transcript": "ENST00000400011.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1861,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8024,
"cdna_start": null,
"cds_end": null,
"cds_length": 5586,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301025.3",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4652-88G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287954.2",
"strand": false,
"transcript": "NM_001301025.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1861,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": null,
"cds_end": null,
"cds_length": 5586,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356107.11",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4652-88G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348416.7",
"strand": false,
"transcript": "ENST00000356107.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1841,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7964,
"cdna_start": null,
"cds_end": null,
"cds_length": 5526,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001355012.2",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4652-88G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341941.1",
"strand": false,
"transcript": "NM_001355012.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1759,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7617,
"cdna_start": null,
"cds_end": null,
"cds_length": 5280,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001355013.1",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4385-88G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341942.1",
"strand": false,
"transcript": "NM_001355013.1",
"transcript_support_level": null
},
{
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"aa_length": 1755,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7936,
"cdna_start": null,
"cds_end": null,
"cds_length": 5268,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001355014.2",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4373-88G>A",
"hgvs_p": null,
"intron_rank": 24,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341943.1",
"strand": false,
"transcript": "NM_001355014.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003257.5",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4373-88G>A",
"hgvs_p": null,
"intron_rank": 24,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_003248.3",
"strand": false,
"transcript": "NM_003257.5",
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},
{
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"consequences": [
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],
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"feature": "ENST00000934394.1",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4184-88G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604453.1",
"strand": false,
"transcript": "ENST00000934394.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001301026.2",
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"protein_coding": true,
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},
{
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"feature": "NM_001355015.2",
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},
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000677774.1",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4133-88G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504775.1",
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"transcript": "ENST00000677774.1",
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},
{
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],
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"feature": "ENST00000934392.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604451.1",
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"transcript": "ENST00000934392.1",
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},
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],
"exon_count": 26,
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"feature": "ENST00000934390.1",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4076-88G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604449.1",
"strand": false,
"transcript": "ENST00000934390.1",
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},
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"consequences": [
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],
"exon_count": 27,
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"feature": "NM_175610.4",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.4133-88G>A",
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},
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"feature": "ENST00000545208.6",
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},
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],
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"feature": "ENST00000934391.1",
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},
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"consequences": [
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],
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"feature": "ENST00000934393.1",
"gene_hgnc_id": 11827,
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"hgvs_c": "c.4133-88G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604452.1",
"strand": false,
"transcript": "ENST00000934393.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000900272.1",
"gene_hgnc_id": 11827,
"gene_symbol": "TJP1",
"hgvs_c": "c.3782-88G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570331.1",
"strand": false,
"transcript": "ENST00000900272.1",
"transcript_support_level": null
},
{
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