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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: 1-9721495-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9721495&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PIK3CD",
"hgnc_id": 8977,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"inheritance_mode": "Unknown,AD,AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_005026.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 3775,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Immunodeficiency 14,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5412,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_005026.5",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377346.9",
"protein_coding": true,
"protein_id": "NP_005017.3",
"strand": true,
"transcript": "NM_005026.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5412,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000377346.9",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005026.5",
"protein_coding": true,
"protein_id": "ENSP00000366563.4",
"strand": true,
"transcript": "ENST00000377346.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "Y",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 3207,
"cds_start": 1935,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000361110.6",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354410.2",
"strand": true,
"transcript": "ENST00000361110.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Y",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 2236,
"cds_end": null,
"cds_length": 3312,
"cds_start": 2040,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000892288.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Tyr680Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562347.1",
"strand": true,
"transcript": "ENST00000892288.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "Y",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 3312,
"cds_start": 2040,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000960482.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.2040C>T",
"hgvs_p": "p.Tyr680Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630541.1",
"strand": true,
"transcript": "ENST00000960482.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5307,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001437546.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424475.1",
"strand": true,
"transcript": "NM_001437546.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000698712.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513889.1",
"strand": true,
"transcript": "ENST00000698712.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5307,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000698713.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513890.1",
"strand": true,
"transcript": "ENST00000698713.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000892287.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562346.1",
"strand": true,
"transcript": "ENST00000892287.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000892289.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562348.1",
"strand": true,
"transcript": "ENST00000892289.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "Y",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6729,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000932635.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602694.1",
"strand": true,
"transcript": "ENST00000932635.1",
"transcript_support_level": null
},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5968,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1863,
"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000932636.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602695.1",
"strand": true,
"transcript": "ENST00000932636.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 2340,
"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "ENST00000932638.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602697.1",
"strand": true,
"transcript": "ENST00000932638.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1044,
"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2240,
"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000960479.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000960479.1",
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},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_start": 2224,
"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000960481.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Tyr621Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630540.1",
"strand": true,
"transcript": "ENST00000960481.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1043,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5515,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1860,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001350234.2",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Tyr620Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337163.1",
"strand": true,
"transcript": "NM_001350234.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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],
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"feature": "NM_001439206.1",
"gene_hgnc_id": 8977,
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"hgvs_c": "c.1860C>T",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001439206.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000698710.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1860C>T",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000513888.1",
"strand": true,
"transcript": "ENST00000698710.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 2149,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000698715.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Tyr620Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513892.1",
"strand": true,
"transcript": "ENST00000698715.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1043,
"aa_ref": "Y",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5317,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1860,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000932637.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.1860C>T",
"hgvs_p": "p.Tyr620Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602696.1",
"strand": true,
"transcript": "ENST00000932637.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "Y",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1851,
"consequences": [
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"phylop100way_prediction": "Benign",
"phylop100way_score": -0.541,
"pos": 9721495,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_005026.5"
}
]
}