← 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: 20-45899471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45899471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45899471,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006227.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Thr450Thr",
"transcript": "NM_006227.4",
"protein_id": "NP_006218.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 493,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372431.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006227.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Thr450Thr",
"transcript": "ENST00000372431.8",
"protein_id": "ENSP00000361508.3",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 493,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372431.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Thr450Thr",
"transcript": "ENST00000477313.5",
"protein_id": "ENSP00000417138.1",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 493,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477313.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Thr398Thr",
"transcript": "ENST00000354050.8",
"protein_id": "ENSP00000335290.4",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 441,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354050.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000932732.1",
"protein_id": "ENSP00000602791.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 521,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932732.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Thr466Thr",
"transcript": "ENST00000958186.1",
"protein_id": "ENSP00000628245.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 509,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958186.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1365G>A",
"hgvs_p": "p.Thr455Thr",
"transcript": "ENST00000958185.1",
"protein_id": "ENSP00000628244.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 498,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958185.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Thr450Thr",
"transcript": "ENST00000958184.1",
"protein_id": "ENSP00000628243.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 493,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958184.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Thr450Thr",
"transcript": "ENST00000958190.1",
"protein_id": "ENSP00000628249.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 493,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958190.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Thr445Thr",
"transcript": "ENST00000867284.1",
"protein_id": "ENSP00000537343.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 488,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867284.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Thr445Thr",
"transcript": "ENST00000958188.1",
"protein_id": "ENSP00000628247.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 488,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958188.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1320G>A",
"hgvs_p": "p.Thr440Thr",
"transcript": "ENST00000932731.1",
"protein_id": "ENSP00000602790.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 483,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932731.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Thr430Thr",
"transcript": "ENST00000958187.1",
"protein_id": "ENSP00000628246.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 473,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958187.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Thr398Thr",
"transcript": "NM_182676.3",
"protein_id": "NP_872617.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 441,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182676.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Thr398Thr",
"transcript": "ENST00000867287.1",
"protein_id": "ENSP00000537346.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 441,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867287.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Thr398Thr",
"transcript": "ENST00000867289.1",
"protein_id": "ENSP00000537348.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 441,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867289.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Thr395Thr",
"transcript": "ENST00000867286.1",
"protein_id": "ENSP00000537345.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 438,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867286.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1179G>A",
"hgvs_p": "p.Thr393Thr",
"transcript": "ENST00000932735.1",
"protein_id": "ENSP00000602794.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 436,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932735.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1164G>A",
"hgvs_p": "p.Thr388Thr",
"transcript": "ENST00000932734.1",
"protein_id": "ENSP00000602793.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 431,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932734.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Thr371Thr",
"transcript": "ENST00000867285.1",
"protein_id": "ENSP00000537344.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 414,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867285.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Thr362Thr",
"transcript": "NM_001242921.1",
"protein_id": "NP_001229850.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 405,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242921.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Thr362Thr",
"transcript": "ENST00000372420.5",
"protein_id": "ENSP00000361497.1",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 405,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372420.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr",
"transcript": "NM_001242920.2",
"protein_id": "NP_001229849.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 398,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242920.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr",
"transcript": "ENST00000420868.2",
"protein_id": "ENSP00000411671.2",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 398,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420868.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Thr355Thr",
"transcript": "ENST00000867288.1",
"protein_id": "ENSP00000537347.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 398,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867288.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Thr350Thr",
"transcript": "ENST00000958189.1",
"protein_id": "ENSP00000628248.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 393,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958189.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Thr125Thr",
"transcript": "ENST00000932733.1",
"protein_id": "ENSP00000602792.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 168,
"cds_start": 375,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1282+151G>A",
"hgvs_p": null,
"transcript": "ENST00000932736.1",
"protein_id": "ENSP00000602795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932736.1"
}
],
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"dbsnp": "rs896207883",
"frequency_reference_population": 0.000037175138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000396758,
"gnomad_genomes_af": 0.0000131465,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.464,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006227.4",
"gene_symbol": "PLTP",
"hgnc_id": 9093,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Thr450Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}