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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: 3-12381449-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12381449&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12381449,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000651735.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_138711.6",
"protein_id": "NP_619725.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "ENST00000651735.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000651735.1",
"protein_id": "ENSP00000498313.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "NM_138711.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.438T>C",
"hgvs_p": "p.Ala146Ala",
"transcript": "ENST00000287820.10",
"protein_id": "ENSP00000287820.6",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 505,
"cds_start": 438,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000397010.7",
"protein_id": "ENSP00000380205.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000397015.7",
"protein_id": "ENSP00000380210.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000397000.6",
"protein_id": "ENSP00000380196.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 248,
"cds_start": 348,
"cds_end": null,
"cds_length": 747,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.348T>C",
"hgvs_p": null,
"transcript": "ENST00000396999.3",
"protein_id": "ENSP00000380195.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.559T>C",
"hgvs_p": null,
"transcript": "ENST00000477039.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.454T>C",
"hgvs_p": null,
"transcript": "ENST00000497594.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.438T>C",
"hgvs_p": "p.Ala146Ala",
"transcript": "NM_015869.5",
"protein_id": "NP_056953.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 505,
"cds_start": 438,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_001354666.3",
"protein_id": "NP_001341595.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_001354667.3",
"protein_id": "NP_001341596.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_001374263.2",
"protein_id": "NP_001361192.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_001374264.2",
"protein_id": "NP_001361193.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_005037.7",
"protein_id": "NP_005028.5",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "NM_138712.5",
"protein_id": "NP_619726.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000309576.11",
"protein_id": "ENSP00000312472.7",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000397026.7",
"protein_id": "ENSP00000380221.3",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000643197.2",
"protein_id": "ENSP00000495840.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000643888.2",
"protein_id": "ENSP00000494934.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000644622.2",
"protein_id": "ENSP00000494873.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000681982.1",
"protein_id": "ENSP00000508065.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala",
"transcript": "ENST00000682446.1",
"protein_id": "ENSP00000506813.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 475,
"cds_start": 348,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 2785,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"dbsnp": "rs147975759",
"frequency_reference_population": 0.0003953735,
"hom_count_reference_population": 2,
"allele_count_reference_population": 638,
"gnomad_exomes_af": 0.000373617,
"gnomad_genomes_af": 0.000604166,
"gnomad_exomes_ac": 546,
"gnomad_genomes_ac": 92,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.248,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000651735.1",
"gene_symbol": "PPARG",
"hgnc_id": 9236,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Ala116Ala"
}
],
"clinvar_disease": " DIGENIC,INSULIN RESISTANCE,Obesity,PPARG-related familial partial lipodystrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:2",
"phenotype_combined": "Obesity|INSULIN RESISTANCE, DIGENIC|PPARG-related familial partial lipodystrophy|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}