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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: 20-45899641-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45899641&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45899641,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006227.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "NM_006227.4",
"protein_id": "NP_006218.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 493,
"cds_start": 1263,
"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": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "ENST00000372431.8",
"protein_id": "ENSP00000361508.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 493,
"cds_start": 1263,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "ENST00000477313.5",
"protein_id": "ENSP00000417138.1",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 493,
"cds_start": 1263,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Gly369Gly",
"transcript": "ENST00000354050.8",
"protein_id": "ENSP00000335290.4",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 441,
"cds_start": 1107,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Gly449Gly",
"transcript": "ENST00000932732.1",
"protein_id": "ENSP00000602791.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 521,
"cds_start": 1347,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Gly437Gly",
"transcript": "ENST00000958186.1",
"protein_id": "ENSP00000628245.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 509,
"cds_start": 1311,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1278G>A",
"hgvs_p": "p.Gly426Gly",
"transcript": "ENST00000958185.1",
"protein_id": "ENSP00000628244.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 498,
"cds_start": 1278,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "ENST00000958184.1",
"protein_id": "ENSP00000628243.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 493,
"cds_start": 1263,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "ENST00000958190.1",
"protein_id": "ENSP00000628249.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 493,
"cds_start": 1263,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Gly416Gly",
"transcript": "ENST00000867284.1",
"protein_id": "ENSP00000537343.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 488,
"cds_start": 1248,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Gly416Gly",
"transcript": "ENST00000958188.1",
"protein_id": "ENSP00000628247.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 488,
"cds_start": 1248,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gly411Gly",
"transcript": "ENST00000932731.1",
"protein_id": "ENSP00000602790.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 483,
"cds_start": 1233,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Gly401Gly",
"transcript": "ENST00000958187.1",
"protein_id": "ENSP00000628246.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 473,
"cds_start": 1203,
"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": "G",
"aa_alt": "G",
"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.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "ENST00000932736.1",
"protein_id": "ENSP00000602795.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 454,
"cds_start": 1263,
"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"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Gly369Gly",
"transcript": "NM_182676.3",
"protein_id": "NP_872617.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 441,
"cds_start": 1107,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Gly369Gly",
"transcript": "ENST00000867287.1",
"protein_id": "ENSP00000537346.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 441,
"cds_start": 1107,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Gly369Gly",
"transcript": "ENST00000867289.1",
"protein_id": "ENSP00000537348.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 441,
"cds_start": 1107,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Gly366Gly",
"transcript": "ENST00000867286.1",
"protein_id": "ENSP00000537345.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 438,
"cds_start": 1098,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Gly364Gly",
"transcript": "ENST00000932735.1",
"protein_id": "ENSP00000602794.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 436,
"cds_start": 1092,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1077G>A",
"hgvs_p": "p.Gly359Gly",
"transcript": "ENST00000932734.1",
"protein_id": "ENSP00000602793.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 431,
"cds_start": 1077,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1026G>A",
"hgvs_p": "p.Gly342Gly",
"transcript": "ENST00000867285.1",
"protein_id": "ENSP00000537344.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 414,
"cds_start": 1026,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Gly333Gly",
"transcript": "NM_001242921.1",
"protein_id": "NP_001229850.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 405,
"cds_start": 999,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
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"intron_rank": null,
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"gene_symbol": "PLTP",
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"hgvs_p": "p.Gly333Gly",
"transcript": "ENST00000372420.5",
"protein_id": "ENSP00000361497.1",
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"aa_start": 333,
"aa_end": null,
"aa_length": 405,
"cds_start": 999,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Gly326Gly",
"transcript": "NM_001242920.2",
"protein_id": "NP_001229849.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 398,
"cds_start": 978,
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"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": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Gly326Gly",
"transcript": "ENST00000420868.2",
"protein_id": "ENSP00000411671.2",
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"aa_start": 326,
"aa_end": null,
"aa_length": 398,
"cds_start": 978,
"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": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
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"exon_count": 13,
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"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Gly326Gly",
"transcript": "ENST00000867288.1",
"protein_id": "ENSP00000537347.1",
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"aa_start": 326,
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"aa_length": 398,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000867288.1"
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
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"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Gly321Gly",
"transcript": "ENST00000958189.1",
"protein_id": "ENSP00000628248.1",
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"aa_length": 393,
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"biotype": "protein_coding",
"feature": "ENST00000958189.1"
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
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"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.288G>A",
"hgvs_p": "p.Gly96Gly",
"transcript": "ENST00000932733.1",
"protein_id": "ENSP00000602792.1",
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"aa_start": 96,
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"aa_length": 168,
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"cds_end": null,
"cds_length": 507,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932733.1"
}
],
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.564,
"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": -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.1263G>A",
"hgvs_p": "p.Gly421Gly"
}
],
"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
}