← 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: 11-117408997-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117408997&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117408997,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000278935.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Pro1239Pro",
"transcript": "NM_014956.5",
"protein_id": "NP_055771.4",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3717,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "ENST00000278935.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Pro1239Pro",
"transcript": "ENST00000278935.8",
"protein_id": "ENSP00000278935.3",
"transcript_support_level": 1,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3717,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "NM_014956.5",
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.4599G>A",
"hgvs_p": null,
"transcript": "ENST00000533223.1",
"protein_id": null,
"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": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3723G>A",
"hgvs_p": "p.Pro1241Pro",
"transcript": "NM_001440949.1",
"protein_id": "NP_001427878.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1462,
"cds_start": 3723,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Pro1239Pro",
"transcript": "NM_001440950.1",
"protein_id": "NP_001427879.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3717,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4169,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Pro1239Pro",
"transcript": "NM_001440951.1",
"protein_id": "NP_001427880.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3717,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4093,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3708G>A",
"hgvs_p": "p.Pro1236Pro",
"transcript": "NM_001440952.1",
"protein_id": "NP_001427881.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1457,
"cds_start": 3708,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 4160,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3726G>A",
"hgvs_p": "p.Pro1242Pro",
"transcript": "NM_001271933.2",
"protein_id": "NP_001258862.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3726,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Pro1239Pro",
"transcript": "NM_001440953.1",
"protein_id": "NP_001427882.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3717,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 4169,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Pro1213Pro",
"transcript": "NM_001440954.1",
"protein_id": "NP_001427883.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3639,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 4091,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Pro1213Pro",
"transcript": "NM_001440955.1",
"protein_id": "NP_001427884.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3639,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 3787,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3630G>A",
"hgvs_p": "p.Pro1210Pro",
"transcript": "NM_001440956.1",
"protein_id": "NP_001427885.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3630,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 4082,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3627G>A",
"hgvs_p": "p.Pro1209Pro",
"transcript": "NM_001440957.1",
"protein_id": "NP_001427886.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3627,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Pro1213Pro",
"transcript": "NM_001440958.1",
"protein_id": "NP_001427887.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3639,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4091,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Pro1213Pro",
"transcript": "NM_001440959.1",
"protein_id": "NP_001427888.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3639,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3787,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3588G>A",
"hgvs_p": "p.Pro1196Pro",
"transcript": "NM_001440960.1",
"protein_id": "NP_001427889.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3588,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4075,
"cdna_end": null,
"cdna_length": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Pro1193Pro",
"transcript": "NM_001440961.1",
"protein_id": "NP_001427890.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3579,
"cds_end": null,
"cds_length": 4245,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3570G>A",
"hgvs_p": "p.Pro1190Pro",
"transcript": "NM_001440962.1",
"protein_id": "NP_001427891.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3570,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3570G>A",
"hgvs_p": "p.Pro1190Pro",
"transcript": "NM_001440963.1",
"protein_id": "NP_001427892.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3570,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 3946,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3567G>A",
"hgvs_p": "p.Pro1189Pro",
"transcript": "NM_001440964.1",
"protein_id": "NP_001427893.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3567G>A",
"hgvs_p": "p.Pro1189Pro",
"transcript": "NM_001440965.1",
"protein_id": "NP_001427894.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3567G>A",
"hgvs_p": "p.Pro1189Pro",
"transcript": "NM_001440966.1",
"protein_id": "NP_001427895.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3715,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Pro1193Pro",
"transcript": "NM_001440967.1",
"protein_id": "NP_001427896.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3579,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3552G>A",
"hgvs_p": "p.Pro1184Pro",
"transcript": "NM_001440968.1",
"protein_id": "NP_001427897.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3552,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 3928,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3549G>A",
"hgvs_p": "p.Pro1183Pro",
"transcript": "NM_001440969.1",
"protein_id": "NP_001427898.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3549,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3697,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3570G>A",
"hgvs_p": "p.Pro1190Pro",
"transcript": "NM_001440970.1",
"protein_id": "NP_001427899.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3570,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3567G>A",
"hgvs_p": "p.Pro1189Pro",
"transcript": "NM_001440971.1",
"protein_id": "NP_001427900.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3558G>A",
"hgvs_p": "p.Pro1186Pro",
"transcript": "NM_001440972.1",
"protein_id": "NP_001427901.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3558,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 4181,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "NM_001440973.1",
"protein_id": "NP_001427902.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3944,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "NM_001440974.1",
"protein_id": "NP_001427903.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3868,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "NM_001440975.1",
"protein_id": "NP_001427904.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3640,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3489G>A",
"hgvs_p": "p.Pro1163Pro",
"transcript": "NM_001440976.1",
"protein_id": "NP_001427905.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3489,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3489G>A",
"hgvs_p": "p.Pro1163Pro",
"transcript": "NM_001440977.1",
"protein_id": "NP_001427906.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3489,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3507G>A",
"hgvs_p": "p.Pro1169Pro",
"transcript": "NM_001440978.1",
"protein_id": "NP_001427907.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3507,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "NM_001440979.1",
"protein_id": "NP_001427908.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3868,
"cdna_end": null,
"cdna_length": 5608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "NM_001440980.1",
"protein_id": "NP_001427909.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "NM_001440981.1",
"protein_id": "NP_001427910.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3640,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3489G>A",
"hgvs_p": "p.Pro1163Pro",
"transcript": "NM_001440982.1",
"protein_id": "NP_001427911.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3489,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3429G>A",
"hgvs_p": "p.Pro1143Pro",
"transcript": "NM_001440983.1",
"protein_id": "NP_001427912.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3429,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3805,
"cdna_end": null,
"cdna_length": 5545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3360G>A",
"hgvs_p": "p.Pro1120Pro",
"transcript": "NM_001440984.1",
"protein_id": "NP_001427913.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3360,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3342G>A",
"hgvs_p": "p.Pro1114Pro",
"transcript": "NM_001440987.1",
"protein_id": "NP_001427916.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1335,
"cds_start": 3342,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 3794,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3357G>A",
"hgvs_p": "p.Pro1119Pro",
"transcript": "NM_001440990.1",
"protein_id": "NP_001427919.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3282G>A",
"hgvs_p": "p.Pro1094Pro",
"transcript": "NM_001440992.1",
"protein_id": "NP_001427921.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3282,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5463G>A",
"hgvs_p": "p.Pro1821Pro",
"transcript": "XM_011542674.2",
"protein_id": "XP_011540976.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2042,
"cds_start": 5463,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 5915,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5463G>A",
"hgvs_p": "p.Pro1821Pro",
"transcript": "XM_017017367.2",
"protein_id": "XP_016872856.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2042,
"cds_start": 5463,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 5839,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5460G>A",
"hgvs_p": "p.Pro1820Pro",
"transcript": "XM_017017368.2",
"protein_id": "XP_016872857.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 2041,
"cds_start": 5460,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 5912,
"cdna_end": null,
"cdna_length": 7676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5463G>A",
"hgvs_p": "p.Pro1821Pro",
"transcript": "XM_017017369.2",
"protein_id": "XP_016872858.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2034,
"cds_start": 5463,
"cds_end": null,
"cds_length": 6105,
"cdna_start": 5915,
"cdna_end": null,
"cdna_length": 7655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5460G>A",
"hgvs_p": "p.Pro1820Pro",
"transcript": "XM_017017370.2",
"protein_id": "XP_016872859.1",
"transcript_support_level": null,
"aa_start": 1820,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5460,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5912,
"cdna_end": null,
"cdna_length": 7652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5412G>A",
"hgvs_p": "p.Pro1804Pro",
"transcript": "XM_006718788.2",
"protein_id": "XP_006718851.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5412,
"cds_end": null,
"cds_length": 6078,
"cdna_start": 5864,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5403G>A",
"hgvs_p": "p.Pro1801Pro",
"transcript": "XM_005271453.2",
"protein_id": "XP_005271510.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 2022,
"cds_start": 5403,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 5855,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5400G>A",
"hgvs_p": "p.Pro1800Pro",
"transcript": "XM_047426569.1",
"protein_id": "XP_047282525.1",
"transcript_support_level": null,
"aa_start": 1800,
"aa_end": null,
"aa_length": 2021,
"cds_start": 5400,
"cds_end": null,
"cds_length": 6066,
"cdna_start": 5852,
"cdna_end": null,
"cdna_length": 7616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5412G>A",
"hgvs_p": "p.Pro1804Pro",
"transcript": "XM_047426570.1",
"protein_id": "XP_047282526.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 2017,
"cds_start": 5412,
"cds_end": null,
"cds_length": 6054,
"cdna_start": 5864,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5385G>A",
"hgvs_p": "p.Pro1795Pro",
"transcript": "XM_017017371.2",
"protein_id": "XP_016872860.1",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2016,
"cds_start": 5385,
"cds_end": null,
"cds_length": 6051,
"cdna_start": 5837,
"cdna_end": null,
"cdna_length": 7601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5403G>A",
"hgvs_p": "p.Pro1801Pro",
"transcript": "XM_047426571.1",
"protein_id": "XP_047282527.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 2014,
"cds_start": 5403,
"cds_end": null,
"cds_length": 6045,
"cdna_start": 5855,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5400G>A",
"hgvs_p": "p.Pro1800Pro",
"transcript": "XM_047426572.1",
"protein_id": "XP_047282528.1",
"transcript_support_level": null,
"aa_start": 1800,
"aa_end": null,
"aa_length": 2013,
"cds_start": 5400,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 5852,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5325G>A",
"hgvs_p": "p.Pro1775Pro",
"transcript": "XM_017017372.2",
"protein_id": "XP_016872861.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1996,
"cds_start": 5325,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 5777,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5322G>A",
"hgvs_p": "p.Pro1774Pro",
"transcript": "XM_047426573.1",
"protein_id": "XP_047282529.1",
"transcript_support_level": null,
"aa_start": 1774,
"aa_end": null,
"aa_length": 1995,
"cds_start": 5322,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 5774,
"cdna_end": null,
"cdna_length": 7538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5313G>A",
"hgvs_p": "p.Pro1771Pro",
"transcript": "XM_047426574.1",
"protein_id": "XP_047282530.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5313,
"cds_end": null,
"cds_length": 5979,
"cdna_start": 5765,
"cdna_end": null,
"cdna_length": 7529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5325G>A",
"hgvs_p": "p.Pro1775Pro",
"transcript": "XM_047426575.1",
"protein_id": "XP_047282531.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5325,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 5777,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5316G>A",
"hgvs_p": "p.Pro1772Pro",
"transcript": "XM_047426576.1",
"protein_id": "XP_047282532.1",
"transcript_support_level": null,
"aa_start": 1772,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5316,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 5768,
"cdna_end": null,
"cdna_length": 7508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5463G>A",
"hgvs_p": "p.Pro1821Pro",
"transcript": "XM_047426577.1",
"protein_id": "XP_047282533.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 1977,
"cds_start": 5463,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 5915,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5265G>A",
"hgvs_p": "p.Pro1755Pro",
"transcript": "XM_047426578.1",
"protein_id": "XP_047282534.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5265,
"cds_end": null,
"cds_length": 5931,
"cdna_start": 5717,
"cdna_end": null,
"cdna_length": 7481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5256G>A",
"hgvs_p": "p.Pro1752Pro",
"transcript": "XM_047426579.1",
"protein_id": "XP_047282535.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1973,
"cds_start": 5256,
"cds_end": null,
"cds_length": 5922,
"cdna_start": 5708,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5253G>A",
"hgvs_p": "p.Pro1751Pro",
"transcript": "XM_047426580.1",
"protein_id": "XP_047282536.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5253,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 5705,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5265G>A",
"hgvs_p": "p.Pro1755Pro",
"transcript": "XM_047426581.1",
"protein_id": "XP_047282537.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 1968,
"cds_start": 5265,
"cds_end": null,
"cds_length": 5907,
"cdna_start": 5717,
"cdna_end": null,
"cdna_length": 7457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5262G>A",
"hgvs_p": "p.Pro1754Pro",
"transcript": "XM_047426582.1",
"protein_id": "XP_047282538.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1967,
"cds_start": 5262,
"cds_end": null,
"cds_length": 5904,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 7454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5256G>A",
"hgvs_p": "p.Pro1752Pro",
"transcript": "XM_047426583.1",
"protein_id": "XP_047282539.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1965,
"cds_start": 5256,
"cds_end": null,
"cds_length": 5898,
"cdna_start": 5708,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5253G>A",
"hgvs_p": "p.Pro1751Pro",
"transcript": "XM_047426584.1",
"protein_id": "XP_047282540.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1964,
"cds_start": 5253,
"cds_end": null,
"cds_length": 5895,
"cdna_start": 5705,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3726G>A",
"hgvs_p": "p.Pro1242Pro",
"transcript": "XM_005271457.2",
"protein_id": "XP_005271514.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3726,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4178,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3714G>A",
"hgvs_p": "p.Pro1238Pro",
"transcript": "XM_047426588.1",
"protein_id": "XP_047282544.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3714,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4166,
"cdna_end": null,
"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3645G>A",
"hgvs_p": "p.Pro1215Pro",
"transcript": "XM_047426589.1",
"protein_id": "XP_047282545.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3645,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4097,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3648G>A",
"hgvs_p": "p.Pro1216Pro",
"transcript": "XM_047426590.1",
"protein_id": "XP_047282546.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3648,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4100,
"cdna_end": null,
"cdna_length": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3567G>A",
"hgvs_p": "p.Pro1189Pro",
"transcript": "XM_047426598.1",
"protein_id": "XP_047282554.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3567,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3501G>A",
"hgvs_p": "p.Pro1167Pro",
"transcript": "XM_047426599.1",
"protein_id": "XP_047282555.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3501,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 3953,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3492G>A",
"hgvs_p": "p.Pro1164Pro",
"transcript": "XM_047426604.1",
"protein_id": "XP_047282560.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3492,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3944,
"cdna_end": null,
"cdna_length": 5684,
"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": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.3944G>A",
"hgvs_p": null,
"transcript": "ENST00000533675.5",
"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": 4761,
"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": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.3271G>A",
"hgvs_p": null,
"transcript": "ENST00000533706.5",
"protein_id": null,
"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": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.-20G>A",
"hgvs_p": null,
"transcript": "ENST00000528706.5",
"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": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"dbsnp": "rs149567170",
"frequency_reference_population": 0.00015117158,
"hom_count_reference_population": 1,
"allele_count_reference_population": 244,
"gnomad_exomes_af": 0.000101244,
"gnomad_genomes_af": 0.000630558,
"gnomad_exomes_ac": 148,
"gnomad_genomes_ac": 96,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.346,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000278935.8",
"gene_symbol": "CEP164",
"hgnc_id": 29182,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3717G>A",
"hgvs_p": "p.Pro1239Pro"
}
],
"clinvar_disease": "Nephronophthisis 15,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Nephronophthisis 15|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}