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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: 5-149820480-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149820480&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 149820480,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000309241.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "NM_133263.4",
"protein_id": "NP_573570.3",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1023,
"cds_start": 126,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 10569,
"mane_select": "ENST00000309241.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "ENST00000309241.10",
"protein_id": "ENSP00000312649.5",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 1023,
"cds_start": 126,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 10569,
"mane_select": "NM_133263.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "ENST00000394320.7",
"protein_id": "ENSP00000377855.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 1017,
"cds_start": 126,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "ENST00000360453.8",
"protein_id": "ENSP00000353638.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 984,
"cds_start": 126,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "NM_001172698.2",
"protein_id": "NP_001166169.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 984,
"cds_start": 126,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 10452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Leu17Leu",
"transcript": "NM_001172699.2",
"protein_id": "NP_001166170.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 959,
"cds_start": 51,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 10541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.Leu17Leu",
"transcript": "ENST00000403750.5",
"protein_id": "ENSP00000384403.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 959,
"cds_start": 51,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "XM_011537553.3",
"protein_id": "XP_011535855.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1064,
"cds_start": 126,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.Leu21Leu",
"transcript": "XM_011537554.3",
"protein_id": "XP_011535856.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1043,
"cds_start": 63,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "XM_011537555.3",
"protein_id": "XP_011535857.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1025,
"cds_start": 126,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.Leu21Leu",
"transcript": "XM_005268372.4",
"protein_id": "XP_005268429.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1002,
"cds_start": 63,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 10821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu",
"transcript": "XM_011537557.2",
"protein_id": "XP_011535859.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 581,
"cds_start": 126,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPARGC1B",
"gene_hgnc_id": 30022,
"dbsnp": "rs32588",
"frequency_reference_population": 0.14483772,
"hom_count_reference_population": 20157,
"allele_count_reference_population": 233731,
"gnomad_exomes_af": 0.139092,
"gnomad_genomes_af": 0.20007,
"gnomad_exomes_ac": 203310,
"gnomad_genomes_ac": 30421,
"gnomad_exomes_homalt": 16358,
"gnomad_genomes_homalt": 3799,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.897,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000309241.10",
"gene_symbol": "PPARGC1B",
"hgnc_id": 30022,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Leu42Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}