← 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: 11-95827826-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95827826&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95827826,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000325542.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.926T>G",
"hgvs_p": "p.Leu309Arg",
"transcript": "NM_014679.5",
"protein_id": "NP_055494.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 500,
"cds_start": 926,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000325542.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.926T>G",
"hgvs_p": "p.Leu309Arg",
"transcript": "ENST00000325542.10",
"protein_id": "ENSP00000317902.5",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 500,
"cds_start": 926,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.848T>G",
"hgvs_p": "p.Leu283Arg",
"transcript": "ENST00000325486.9",
"protein_id": "ENSP00000317487.5",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 474,
"cds_start": 848,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3098,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*690T>G",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*690T>G",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.899T>G",
"hgvs_p": "p.Leu300Arg",
"transcript": "NM_001243776.2",
"protein_id": "NP_001230705.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 491,
"cds_start": 899,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.899T>G",
"hgvs_p": "p.Leu300Arg",
"transcript": "ENST00000541150.5",
"protein_id": "ENSP00000443436.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 491,
"cds_start": 899,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.848T>G",
"hgvs_p": "p.Leu283Arg",
"transcript": "NM_001243777.2",
"protein_id": "NP_001230706.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 474,
"cds_start": 848,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.845T>G",
"hgvs_p": "p.Leu282Arg",
"transcript": "NM_001363604.2",
"protein_id": "NP_001350533.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 473,
"cds_start": 845,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.845T>G",
"hgvs_p": "p.Leu282Arg",
"transcript": "NM_001440869.1",
"protein_id": "NP_001427798.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 473,
"cds_start": 845,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.845T>G",
"hgvs_p": "p.Leu282Arg",
"transcript": "NM_001440870.1",
"protein_id": "NP_001427799.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 473,
"cds_start": 845,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.845T>G",
"hgvs_p": "p.Leu282Arg",
"transcript": "ENST00000537677.5",
"protein_id": "ENSP00000441392.1",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 473,
"cds_start": 845,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.818T>G",
"hgvs_p": "p.Leu273Arg",
"transcript": "NM_001440871.1",
"protein_id": "NP_001427800.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 464,
"cds_start": 818,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.809T>G",
"hgvs_p": "p.Leu270Arg",
"transcript": "NM_001440872.1",
"protein_id": "NP_001427801.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 461,
"cds_start": 809,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.746T>G",
"hgvs_p": "p.Leu249Arg",
"transcript": "NM_001440873.1",
"protein_id": "NP_001427802.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 440,
"cds_start": 746,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.740T>G",
"hgvs_p": "p.Leu247Arg",
"transcript": "NM_001440874.1",
"protein_id": "NP_001427803.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 438,
"cds_start": 740,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.737T>G",
"hgvs_p": "p.Leu246Arg",
"transcript": "NM_001440875.1",
"protein_id": "NP_001427804.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 437,
"cds_start": 737,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.731T>G",
"hgvs_p": "p.Leu244Arg",
"transcript": "NM_001440876.1",
"protein_id": "NP_001427805.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 435,
"cds_start": 731,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg",
"transcript": "NM_001440877.1",
"protein_id": "NP_001427806.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Leu243Arg",
"transcript": "NM_001440878.1",
"protein_id": "NP_001427807.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 434,
"cds_start": 728,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.701T>G",
"hgvs_p": "p.Leu234Arg",
"transcript": "NM_001440879.1",
"protein_id": "NP_001427808.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 425,
"cds_start": 701,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.665T>G",
"hgvs_p": "p.Leu222Arg",
"transcript": "NM_001440880.1",
"protein_id": "NP_001427809.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 413,
"cds_start": 665,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Leu210Arg",
"transcript": "NM_001440881.1",
"protein_id": "NP_001427810.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 401,
"cds_start": 629,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.623T>G",
"hgvs_p": "p.Leu208Arg",
"transcript": "NM_001440882.1",
"protein_id": "NP_001427811.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 399,
"cds_start": 623,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.293T>G",
"hgvs_p": "p.Leu98Arg",
"transcript": "ENST00000535224.1",
"protein_id": "ENSP00000440256.1",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 252,
"cds_start": 293,
"cds_end": null,
"cds_length": 759,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.203T>G",
"hgvs_p": "p.Leu68Arg",
"transcript": "ENST00000537093.5",
"protein_id": "ENSP00000444749.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 133,
"cds_start": 203,
"cds_end": null,
"cds_length": 404,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.899T>G",
"hgvs_p": "p.Leu300Arg",
"transcript": "XM_017018592.2",
"protein_id": "XP_016874081.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 491,
"cds_start": 899,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.176T>G",
"hgvs_p": "p.Leu59Arg",
"transcript": "XM_047427925.1",
"protein_id": "XP_047283881.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 250,
"cds_start": 176,
"cds_end": null,
"cds_length": 753,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.2144T>G",
"hgvs_p": null,
"transcript": "ENST00000538158.1",
"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": 2632,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*705T>G",
"hgvs_p": null,
"transcript": "ENST00000539855.5",
"protein_id": "ENSP00000437422.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*705T>G",
"hgvs_p": null,
"transcript": "ENST00000539855.5",
"protein_id": "ENSP00000437422.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*2428+2722A>C",
"hgvs_p": null,
"transcript": "ENST00000675896.1",
"protein_id": "ENSP00000502487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"dbsnp": "rs567427808",
"frequency_reference_population": 0.000009912571,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000478866,
"gnomad_genomes_af": 0.0000590838,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.048494160175323486,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.1156,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.18,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000325542.10",
"gene_symbol": "CEP57",
"hgnc_id": 30794,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.926T>G",
"hgvs_p": "p.Leu309Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675896.1",
"gene_symbol": "MTMR2",
"hgnc_id": 7450,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*2428+2722A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Mosaic variegated aneuploidy syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Mosaic variegated aneuploidy syndrome 2|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}