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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: 3-12433900-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12433900&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PPARG",
"hgnc_id": 9236,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 15,
"score": 15,
"transcript": "NM_015869.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 15,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9972,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "PPARG-related familial partial lipodystrophy,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9852660298347473,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000651735.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1273,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000287820.10",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397010.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397015.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "T",
"aa_end": null,
"aa_length": 248,
"aa_ref": "T",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1122,
"cdna_start": 806,
"cds_end": null,
"cds_length": 747,
"cds_start": 732,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397000.6",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.732C>T",
"hgvs_p": "p.Thr244Thr",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396999.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "n.*771C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380195.3",
"strand": true,
"transcript": "ENST00000396999.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396999.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "n.*771C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380195.3",
"strand": true,
"transcript": "ENST00000396999.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1273,
"consequences": [
"missense_variant",
"splice_region_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.1273C>T",
"hgvs_p": "p.Arg425Cys",
"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": "C",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1237,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942278.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Arg413Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_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.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000309576.11",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397026.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643197.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495840.2",
"strand": true,
"transcript": "ENST00000643197.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1183,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643888.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"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": "C",
"aa_end": null,
"aa_length": 475,
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"frequency_reference_population": 0.0000013681931,
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136819,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "PPARG-related familial partial lipodystrophy|not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.864,
"pos": 12433900,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.785,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015869.5"
}
]
}