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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: 3-12288284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12288284&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": "PPARG",
"hgnc_id": 9236,
"hgvs_c": "c.-9+264C>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005037.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 13402,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397010.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-83+609C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397015.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-9+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354666.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-83+609C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005037.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-9+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138712.5",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-83+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000309576.11",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-83+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643197.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-412+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643888.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-171+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644622.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-484+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": 475,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892317.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-155+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562376.1",
"strand": true,
"transcript": "ENST00000892317.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000892318.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-286+264C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562377.1",
"strand": true,
"transcript": "ENST00000892318.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000892319.1",
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"hgvs_p": null,
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"protein_coding": true,
"protein_id": "ENSP00000562378.1",
"strand": true,
"transcript": "ENST00000892319.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000892321.1",
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"protein_coding": true,
"protein_id": "ENSP00000562380.1",
"strand": true,
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000892322.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-198+264C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562381.1",
"strand": true,
"transcript": "ENST00000892322.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000892323.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
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"protein_coding": true,
"protein_id": "ENSP00000562382.1",
"strand": true,
"transcript": "ENST00000892323.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000942257.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-412+609C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612316.1",
"strand": true,
"transcript": "ENST00000942257.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942258.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-350+264C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000612317.1",
"strand": true,
"transcript": "ENST00000942258.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000942259.1",
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"hgvs_c": "c.-686+264C>T",
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"protein_id": "ENSP00000612318.1",
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},
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],
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"feature": "ENST00000942260.1",
"gene_hgnc_id": 9236,
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"protein_coding": true,
"protein_id": "ENSP00000612319.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000942262.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-189+264C>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000612321.1",
"strand": true,
"transcript": "ENST00000942262.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000942263.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.-97+264C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612322.1",
"strand": true,
"transcript": "ENST00000942263.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1428,
"cds_start": null,
"consequences": [
"intron_variant"
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