← 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: 5-150393451-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150393451&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150393451,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000643257.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Ser1228Phe",
"transcript": "NM_001371623.1",
"protein_id": "NP_001358552.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1489,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "ENST00000643257.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Ser1228Phe",
"transcript": "ENST00000643257.2",
"protein_id": "ENSP00000493815.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1489,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "NM_001371623.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3680C>T",
"hgvs_p": "p.Ser1227Phe",
"transcript": "ENST00000504761.6",
"protein_id": "ENSP00000421655.2",
"transcript_support_level": 1,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Ser1150Phe",
"transcript": "ENST00000323668.11",
"protein_id": "ENSP00000325223.6",
"transcript_support_level": 1,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3449,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3524,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3680C>T",
"hgvs_p": "p.Ser1227Phe",
"transcript": "NM_001135243.2",
"protein_id": "NP_001128715.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3680C>T",
"hgvs_p": "p.Ser1227Phe",
"transcript": "ENST00000377797.7",
"protein_id": "ENSP00000367028.4",
"transcript_support_level": 5,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 3788,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3680C>T",
"hgvs_p": "p.Ser1227Phe",
"transcript": "ENST00000513346.5",
"protein_id": "ENSP00000427484.1",
"transcript_support_level": 5,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 3680,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3569C>T",
"hgvs_p": "p.Ser1190Phe",
"transcript": "NM_001135244.2",
"protein_id": "NP_001128716.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3569,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3569C>T",
"hgvs_p": "p.Ser1190Phe",
"transcript": "ENST00000439160.6",
"protein_id": "ENSP00000406888.2",
"transcript_support_level": 5,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3569,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3566C>T",
"hgvs_p": "p.Ser1189Phe",
"transcript": "NM_001195141.2",
"protein_id": "NP_001182070.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3566,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 3616,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3566C>T",
"hgvs_p": "p.Ser1189Phe",
"transcript": "ENST00000427724.7",
"protein_id": "ENSP00000390717.3",
"transcript_support_level": 5,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3566,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3452C>T",
"hgvs_p": "p.Ser1151Phe",
"transcript": "NM_001135245.2",
"protein_id": "NP_001128717.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3452C>T",
"hgvs_p": "p.Ser1151Phe",
"transcript": "ENST00000445265.6",
"protein_id": "ENSP00000409944.2",
"transcript_support_level": 5,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3452,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Ser1150Phe",
"transcript": "NM_000356.4",
"protein_id": "NP_000347.2",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3449,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3449C>T",
"hgvs_p": "p.Ser1150Phe",
"transcript": "NM_001437406.1",
"protein_id": "NP_001424335.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3449,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3338C>T",
"hgvs_p": "p.Ser1113Phe",
"transcript": "ENST00000650162.1",
"protein_id": "ENSP00000497075.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3338,
"cds_end": null,
"cds_length": 4076,
"cdna_start": 3456,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3080C>T",
"hgvs_p": "p.Ser1027Phe",
"transcript": "ENST00000674413.1",
"protein_id": "ENSP00000501343.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3719,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3794C>T",
"hgvs_p": "p.Ser1265Phe",
"transcript": "XM_005268502.5",
"protein_id": "XP_005268559.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3794,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3791C>T",
"hgvs_p": "p.Ser1264Phe",
"transcript": "XM_005268503.5",
"protein_id": "XP_005268560.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3791,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3841,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3791C>T",
"hgvs_p": "p.Ser1264Phe",
"transcript": "XM_005268504.5",
"protein_id": "XP_005268561.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3791,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3841,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3788C>T",
"hgvs_p": "p.Ser1263Phe",
"transcript": "XM_047417645.1",
"protein_id": "XP_047273601.1",
"transcript_support_level": null,
"aa_start": 1263,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3788,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3838,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3680C>T",
"hgvs_p": "p.Ser1227Phe",
"transcript": "XM_005268506.5",
"protein_id": "XP_005268563.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3680,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3677C>T",
"hgvs_p": "p.Ser1226Phe",
"transcript": "XM_017009792.3",
"protein_id": "XP_016865281.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3677C>T",
"hgvs_p": "p.Ser1226Phe",
"transcript": "XM_047417646.1",
"protein_id": "XP_047273602.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3674C>T",
"hgvs_p": "p.Ser1225Phe",
"transcript": "XM_047417647.1",
"protein_id": "XP_047273603.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3674,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3724,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Ser1205Phe",
"transcript": "XM_011537678.4",
"protein_id": "XP_011535980.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3614,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3611C>T",
"hgvs_p": "p.Ser1204Phe",
"transcript": "XM_047417648.1",
"protein_id": "XP_047273604.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3611,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3611C>T",
"hgvs_p": "p.Ser1204Phe",
"transcript": "XM_047417649.1",
"protein_id": "XP_047273605.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3611,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3608C>T",
"hgvs_p": "p.Ser1203Phe",
"transcript": "XM_047417650.1",
"protein_id": "XP_047273606.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3608,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3658,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3563C>T",
"hgvs_p": "p.Ser1188Phe",
"transcript": "XM_005268507.5",
"protein_id": "XP_005268564.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3563,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3560C>T",
"hgvs_p": "p.Ser1187Phe",
"transcript": "XM_047417651.1",
"protein_id": "XP_047273607.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3560,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3560C>T",
"hgvs_p": "p.Ser1187Phe",
"transcript": "XM_047417652.1",
"protein_id": "XP_047273608.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3560,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3557C>T",
"hgvs_p": "p.Ser1186Phe",
"transcript": "XM_047417653.1",
"protein_id": "XP_047273609.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3557,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3607,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3503C>T",
"hgvs_p": "p.Ser1168Phe",
"transcript": "XM_017009793.3",
"protein_id": "XP_016865282.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3503,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3553,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3500C>T",
"hgvs_p": "p.Ser1167Phe",
"transcript": "XM_047417654.1",
"protein_id": "XP_047273610.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3500,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3500C>T",
"hgvs_p": "p.Ser1167Phe",
"transcript": "XM_047417655.1",
"protein_id": "XP_047273611.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3500,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3497C>T",
"hgvs_p": "p.Ser1166Phe",
"transcript": "XM_047417656.1",
"protein_id": "XP_047273612.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3446C>T",
"hgvs_p": "p.Ser1149Phe",
"transcript": "XM_047417658.1",
"protein_id": "XP_047273614.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3446,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3446C>T",
"hgvs_p": "p.Ser1149Phe",
"transcript": "XM_047417659.1",
"protein_id": "XP_047273615.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3446,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3443C>T",
"hgvs_p": "p.Ser1148Phe",
"transcript": "XM_047417660.1",
"protein_id": "XP_047273616.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1409,
"cds_start": 3443,
"cds_end": null,
"cds_length": 4230,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3389C>T",
"hgvs_p": "p.Ser1130Phe",
"transcript": "XM_017009794.3",
"protein_id": "XP_016865283.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3389,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 3439,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3386C>T",
"hgvs_p": "p.Ser1129Phe",
"transcript": "XM_047417661.1",
"protein_id": "XP_047273617.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3386,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 3436,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3383C>T",
"hgvs_p": "p.Ser1128Phe",
"transcript": "XM_047417662.1",
"protein_id": "XP_047273618.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1389,
"cds_start": 3383,
"cds_end": null,
"cds_length": 4170,
"cdna_start": 3433,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3380C>T",
"hgvs_p": "p.Ser1127Phe",
"transcript": "XM_047417663.1",
"protein_id": "XP_047273619.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3380,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 3430,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3338C>T",
"hgvs_p": "p.Ser1113Phe",
"transcript": "XM_047417664.1",
"protein_id": "XP_047273620.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3338,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3335C>T",
"hgvs_p": "p.Ser1112Phe",
"transcript": "XM_047417665.1",
"protein_id": "XP_047273621.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3335,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Phe",
"transcript": "XM_047417666.1",
"protein_id": "XP_047273622.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3272,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3269C>T",
"hgvs_p": "p.Ser1090Phe",
"transcript": "XM_047417667.1",
"protein_id": "XP_047273623.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3269,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3266C>T",
"hgvs_p": "p.Ser1089Phe",
"transcript": "XM_047417668.1",
"protein_id": "XP_047273624.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3266,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 4609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3266C>T",
"hgvs_p": "p.Ser1089Phe",
"transcript": "XM_047417669.1",
"protein_id": "XP_047273625.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3266,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 4609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3158C>T",
"hgvs_p": "p.Ser1053Phe",
"transcript": "XM_047417670.1",
"protein_id": "XP_047273626.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3158,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3155C>T",
"hgvs_p": "p.Ser1052Phe",
"transcript": "XM_047417671.1",
"protein_id": "XP_047273627.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1313,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 4498,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "n.3730C>T",
"hgvs_p": null,
"transcript": "ENST00000514442.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5195,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.343-3292C>T",
"hgvs_p": null,
"transcript": "ENST00000515516.1",
"protein_id": "ENSP00000426471.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"dbsnp": "rs1554079581",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-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": 0.09131625294685364,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.1353,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.043,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643257.2",
"gene_symbol": "TCOF1",
"hgnc_id": 11654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Ser1228Phe"
}
],
"clinvar_disease": "Treacher Collins syndrome 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Treacher Collins syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}