← Back to variant description
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: 3-12416938-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12416938&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12416938,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000651735.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_138711.6",
"protein_id": "NP_619725.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "ENST00000651735.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000651735.1",
"protein_id": "ENSP00000498313.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "NM_138711.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1054G>C",
"hgvs_p": "p.Glu352Gln",
"transcript": "ENST00000287820.10",
"protein_id": "ENSP00000287820.6",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000397010.7",
"protein_id": "ENSP00000380205.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000397015.7",
"protein_id": "ENSP00000380210.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1772,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*552G>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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*552G>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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.729+10857G>C",
"hgvs_p": null,
"transcript": "ENST00000397000.6",
"protein_id": "ENSP00000380196.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1054G>C",
"hgvs_p": "p.Glu352Gln",
"transcript": "NM_015869.5",
"protein_id": "NP_056953.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_001354666.3",
"protein_id": "NP_001341595.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_001354667.3",
"protein_id": "NP_001341596.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_001374263.2",
"protein_id": "NP_001361192.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_001374264.2",
"protein_id": "NP_001361193.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_005037.7",
"protein_id": "NP_005028.5",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "NM_138712.5",
"protein_id": "NP_619726.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000309576.11",
"protein_id": "ENSP00000312472.7",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000397026.7",
"protein_id": "ENSP00000380221.3",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000643197.2",
"protein_id": "ENSP00000495840.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000643888.2",
"protein_id": "ENSP00000494934.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000644622.2",
"protein_id": "ENSP00000494873.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000681982.1",
"protein_id": "ENSP00000508065.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000682446.1",
"protein_id": "ENSP00000506813.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000683586.1",
"protein_id": "ENSP00000507893.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 475,
"cds_start": 964,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln",
"transcript": "ENST00000652522.1",
"protein_id": "ENSP00000498500.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 375,
"cds_start": 964,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000652431.1",
"protein_id": "ENSP00000498717.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 371,
"cds_start": 652,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Glu273Gln",
"transcript": "ENST00000683700.1",
"protein_id": "ENSP00000508248.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 367,
"cds_start": 817,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.418G>C",
"hgvs_p": "p.Glu140Gln",
"transcript": "ENST00000652098.1",
"protein_id": "ENSP00000498300.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 293,
"cds_start": 418,
"cds_end": null,
"cds_length": 882,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Glu113Gln",
"transcript": "NM_001354669.2",
"protein_id": "NP_001341598.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 266,
"cds_start": 337,
"cds_end": null,
"cds_length": 801,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1646,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*1192G>C",
"hgvs_p": null,
"transcript": "ENST00000397023.5",
"protein_id": "ENSP00000380218.1",
"transcript_support_level": 5,
"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": 2002,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*218G>C",
"hgvs_p": null,
"transcript": "ENST00000681966.1",
"protein_id": "ENSP00000507572.1",
"transcript_support_level": null,
"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": 1601,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.1009G>C",
"hgvs_p": null,
"transcript": "ENST00000682125.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1672,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.3864G>C",
"hgvs_p": null,
"transcript": "ENST00000682494.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4527,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.1207G>C",
"hgvs_p": null,
"transcript": "ENST00000682604.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1853,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.13G>C",
"hgvs_p": null,
"transcript": "ENST00000683599.1",
"protein_id": null,
"transcript_support_level": null,
"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": 485,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.1606G>C",
"hgvs_p": null,
"transcript": "ENST00000684094.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*1192G>C",
"hgvs_p": null,
"transcript": "ENST00000397023.5",
"protein_id": "ENSP00000380218.1",
"transcript_support_level": 5,
"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": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*218G>C",
"hgvs_p": null,
"transcript": "ENST00000681966.1",
"protein_id": "ENSP00000507572.1",
"transcript_support_level": null,
"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": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.819+10857G>C",
"hgvs_p": null,
"transcript": "NM_001374265.1",
"protein_id": "NP_001361194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.819+10857G>C",
"hgvs_p": null,
"transcript": "ENST00000683699.1",
"protein_id": "ENSP00000507823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.729+10857G>C",
"hgvs_p": null,
"transcript": "NM_001330615.4",
"protein_id": "NP_001317544.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.729+10857G>C",
"hgvs_p": null,
"transcript": "NM_001374261.3",
"protein_id": "NP_001361190.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.729+10857G>C",
"hgvs_p": null,
"transcript": "NM_001374262.3",
"protein_id": "NP_001361191.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.653+10939G>C",
"hgvs_p": null,
"transcript": "NM_001374266.1",
"protein_id": "NP_001361195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.*466+10857G>C",
"hgvs_p": null,
"transcript": "ENST00000684065.1",
"protein_id": "ENSP00000508347.1",
"transcript_support_level": null,
"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": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"dbsnp": "rs530007199",
"frequency_reference_population": 6.840872e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84087e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9144041538238525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.796,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.958,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651735.1",
"gene_symbol": "PPARG",
"hgnc_id": 9236,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Glu322Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}