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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: 10-94265652-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94265652&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94265652,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000371380.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "NM_016341.4",
"protein_id": "NP_057425.3",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2302,
"cds_start": 4059,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "ENST00000371380.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "ENST00000371380.8",
"protein_id": "ENSP00000360431.2",
"transcript_support_level": 1,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2302,
"cds_start": 4059,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 12481,
"mane_select": "NM_016341.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Phe1045Phe",
"transcript": "ENST00000371375.2",
"protein_id": "ENSP00000360426.1",
"transcript_support_level": 1,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1994,
"cds_start": 3135,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 9275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4011C>T",
"hgvs_p": "p.Phe1337Phe",
"transcript": "NM_001288989.2",
"protein_id": "NP_001275918.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2286,
"cds_start": 4011,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 4703,
"cdna_end": null,
"cdna_length": 12433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4011C>T",
"hgvs_p": "p.Phe1337Phe",
"transcript": "ENST00000692396.1",
"protein_id": "ENSP00000508605.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 2286,
"cds_start": 4011,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 4600,
"cdna_end": null,
"cdna_length": 9157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "ENST00000692286.1",
"protein_id": "ENSP00000509490.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2230,
"cds_start": 4059,
"cds_end": null,
"cds_length": 6694,
"cdna_start": 4389,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Phe1045Phe",
"transcript": "NM_001165979.2",
"protein_id": "NP_001159451.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1994,
"cds_start": 3135,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 6503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Phe1045Phe",
"transcript": "ENST00000675218.1",
"protein_id": "ENSP00000501910.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1994,
"cds_start": 3135,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Phe1029Phe",
"transcript": "ENST00000688810.1",
"protein_id": "ENSP00000509140.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1978,
"cds_start": 3087,
"cds_end": null,
"cds_length": 5937,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.3033C>T",
"hgvs_p": "p.Phe1011Phe",
"transcript": "ENST00000371385.8",
"protein_id": "ENSP00000360438.4",
"transcript_support_level": 5,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1960,
"cds_start": 3033,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.2136C>T",
"hgvs_p": "p.Phe712Phe",
"transcript": "ENST00000674827.1",
"protein_id": "ENSP00000502523.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 1527,
"cds_start": 2136,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.2904C>T",
"hgvs_p": "p.Phe968Phe",
"transcript": "ENST00000676102.1",
"protein_id": "ENSP00000502811.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2904,
"cds_end": null,
"cds_length": 4111,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_006717885.5",
"protein_id": "XP_006717948.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2316,
"cds_start": 4059,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 12523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_017016310.3",
"protein_id": "XP_016871799.1",
"transcript_support_level": null,
"aa_start": 1353,
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"aa_length": 2316,
"cds_start": 4059,
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"cdna_start": 4798,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_017016311.3",
"protein_id": "XP_016871800.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2316,
"cds_start": 4059,
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"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 10857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_047425284.1",
"protein_id": "XP_047281240.1",
"transcript_support_level": null,
"aa_start": 1353,
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"cdna_start": 4477,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_047425285.1",
"protein_id": "XP_047281241.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2316,
"cds_start": 4059,
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"cdna_start": 6233,
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"cdna_length": 14005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_047425286.1",
"protein_id": "XP_047281242.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2316,
"cds_start": 4059,
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"cdna_start": 4836,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_047425287.1",
"protein_id": "XP_047281243.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
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"cds_start": 4059,
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"cdna_start": 4883,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_006717888.5",
"protein_id": "XP_006717951.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
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"cds_start": 4059,
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"cdna_start": 4751,
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"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_047425288.1",
"protein_id": "XP_047281244.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2315,
"cds_start": 4059,
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"cds_length": 6948,
"cdna_start": 4751,
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"cdna_length": 10854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe",
"transcript": "XM_047425289.1",
"protein_id": "XP_047281245.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 2302,
"cds_start": 4059,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 5043,
"cdna_end": null,
"cdna_length": 12773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
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"exon_count": 32,
"intron_rank": null,
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},
{
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"protein_coding": false,
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"consequences": [
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],
"exon_rank": 1,
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"exon_count": 2,
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"hgvs_c": "n.1134C>T",
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"cdna_length": 1833,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 31,
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"gene_symbol": "PLCE1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"gene_symbol": "PLCE1",
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"hgvs_c": "n.*858C>T",
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"transcript": "ENST00000675718.1",
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},
{
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"3_prime_UTR_variant"
],
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"gene_symbol": "PLCE1",
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"hgvs_c": "n.*602C>T",
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"transcript": "ENST00000685253.1",
"protein_id": "ENSP00000509405.1",
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"cdna_length": 7113,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCE1",
"gene_hgnc_id": 17175,
"dbsnp": "rs61751499",
"frequency_reference_population": 0.0019446352,
"hom_count_reference_population": 35,
"allele_count_reference_population": 3137,
"gnomad_exomes_af": 0.0012024,
"gnomad_genomes_af": 0.00908397,
"gnomad_exomes_ac": 1757,
"gnomad_genomes_ac": 1380,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 24,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.408,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371380.8",
"gene_symbol": "PLCE1",
"hgnc_id": 17175,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Phe1353Phe"
}
],
"clinvar_disease": " type 3,Focal segmental glomerulosclerosis,Nephrotic syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|Nephrotic syndrome, type 3|not provided|Focal segmental glomerulosclerosis",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}