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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: 3-12434058-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12434058&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PPARG",
"hgnc_id": 9236,
"hgvs_c": "c.1431C>T",
"hgvs_p": "p.His477His",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_015869.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 205067,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " DIGENIC,Glioma susceptibility 1,INSULIN RESISTANCE,Obesity,PPARG POLYMORPHISM,PPARG-related familial partial lipodystrophy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_138711.6",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651735.1",
"protein_coding": true,
"protein_id": "NP_619725.3",
"strand": true,
"transcript": "NM_138711.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000651735.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138711.6",
"protein_coding": true,
"protein_id": "ENSP00000498313.1",
"strand": true,
"transcript": "ENST00000651735.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 505,
"aa_ref": "H",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1431,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000287820.10",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1431C>T",
"hgvs_p": "p.His477His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287820.6",
"strand": true,
"transcript": "ENST00000287820.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397010.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380205.3",
"strand": true,
"transcript": "ENST00000397010.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397015.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380210.3",
"strand": true,
"transcript": "ENST00000397015.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1122,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397000.6",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.*143C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380196.2",
"strand": true,
"transcript": "ENST00000397000.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 505,
"aa_ref": "H",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1431,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015869.5",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1431C>T",
"hgvs_p": "p.His477His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056953.2",
"strand": true,
"transcript": "NM_015869.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 493,
"aa_ref": "H",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1395,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942278.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1395C>T",
"hgvs_p": "p.His465His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612337.1",
"strand": true,
"transcript": "ENST00000942278.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354666.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341595.2",
"strand": true,
"transcript": "NM_001354666.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354667.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341596.2",
"strand": true,
"transcript": "NM_001354667.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374263.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361192.2",
"strand": true,
"transcript": "NM_001374263.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374264.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361193.2",
"strand": true,
"transcript": "NM_001374264.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005037.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005028.5",
"strand": true,
"transcript": "NM_005037.7",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_138712.5",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_619726.3",
"strand": true,
"transcript": "NM_138712.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000309576.11",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312472.7",
"strand": true,
"transcript": "ENST00000309576.11",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397026.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380221.3",
"strand": true,
"transcript": "ENST00000397026.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643197.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495840.2",
"strand": true,
"transcript": "ENST00000643197.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643888.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494934.2",
"strand": true,
"transcript": "ENST00000643888.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644622.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494873.2",
"strand": true,
"transcript": "ENST00000644622.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000681982.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.His447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508065.1",
"strand": true,
"transcript": "ENST00000681982.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "H",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 3778,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682446.1",
"gene_hgnc_id": 9236,
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