← 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: 11-117409929-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117409929&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117409929,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000278935.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4060G>C",
"hgvs_p": "p.Asp1354His",
"transcript": "NM_014956.5",
"protein_id": "NP_055771.4",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4208,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "ENST00000278935.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4060G>C",
"hgvs_p": "p.Asp1354His",
"transcript": "ENST00000278935.8",
"protein_id": "ENSP00000278935.3",
"transcript_support_level": 1,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4208,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.4918G>C",
"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": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4066G>C",
"hgvs_p": "p.Asp1356His",
"transcript": "NM_001440949.1",
"protein_id": "NP_001427878.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1462,
"cds_start": 4066,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 4518,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4060G>C",
"hgvs_p": "p.Asp1354His",
"transcript": "NM_001440950.1",
"protein_id": "NP_001427879.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4512,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.4060G>C",
"hgvs_p": "p.Asp1354His",
"transcript": "NM_001440951.1",
"protein_id": "NP_001427880.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.4051G>C",
"hgvs_p": "p.Asp1351His",
"transcript": "NM_001440952.1",
"protein_id": "NP_001427881.1",
"transcript_support_level": null,
"aa_start": 1351,
"aa_end": null,
"aa_length": 1457,
"cds_start": 4051,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 4503,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.4045G>C",
"hgvs_p": "p.Asp1349His",
"transcript": "NM_001271933.2",
"protein_id": "NP_001258862.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4045,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4126,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4036G>C",
"hgvs_p": "p.Asp1346His",
"transcript": "NM_001440953.1",
"protein_id": "NP_001427882.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1452,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 4488,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3982G>C",
"hgvs_p": "p.Asp1328His",
"transcript": "NM_001440954.1",
"protein_id": "NP_001427883.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 4434,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3982G>C",
"hgvs_p": "p.Asp1328His",
"transcript": "NM_001440955.1",
"protein_id": "NP_001427884.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3973G>C",
"hgvs_p": "p.Asp1325His",
"transcript": "NM_001440956.1",
"protein_id": "NP_001427885.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3973,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 4425,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3970G>C",
"hgvs_p": "p.Asp1324His",
"transcript": "NM_001440957.1",
"protein_id": "NP_001427886.1",
"transcript_support_level": null,
"aa_start": 1324,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3970,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4346,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3958G>C",
"hgvs_p": "p.Asp1320His",
"transcript": "NM_001440958.1",
"protein_id": "NP_001427887.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3958,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4410,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3958G>C",
"hgvs_p": "p.Asp1320His",
"transcript": "NM_001440959.1",
"protein_id": "NP_001427888.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3958,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4106,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3931G>C",
"hgvs_p": "p.Asp1311His",
"transcript": "NM_001440960.1",
"protein_id": "NP_001427889.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3931,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4418,
"cdna_end": null,
"cdna_length": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3922G>C",
"hgvs_p": "p.Asp1308His",
"transcript": "NM_001440961.1",
"protein_id": "NP_001427890.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3922,
"cds_end": null,
"cds_length": 4245,
"cdna_start": 4070,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3913G>C",
"hgvs_p": "p.Asp1305His",
"transcript": "NM_001440962.1",
"protein_id": "NP_001427891.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4365,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3913G>C",
"hgvs_p": "p.Asp1305His",
"transcript": "NM_001440963.1",
"protein_id": "NP_001427892.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4289,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3910G>C",
"hgvs_p": "p.Asp1304His",
"transcript": "NM_001440964.1",
"protein_id": "NP_001427893.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4362,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3910G>C",
"hgvs_p": "p.Asp1304His",
"transcript": "NM_001440965.1",
"protein_id": "NP_001427894.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4286,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3910G>C",
"hgvs_p": "p.Asp1304His",
"transcript": "NM_001440966.1",
"protein_id": "NP_001427895.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3898G>C",
"hgvs_p": "p.Asp1300His",
"transcript": "NM_001440967.1",
"protein_id": "NP_001427896.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3898,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4350,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3895G>C",
"hgvs_p": "p.Asp1299His",
"transcript": "NM_001440968.1",
"protein_id": "NP_001427897.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 4271,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Asp1298His",
"transcript": "NM_001440969.1",
"protein_id": "NP_001427898.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3889G>C",
"hgvs_p": "p.Asp1297His",
"transcript": "NM_001440970.1",
"protein_id": "NP_001427899.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3889,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4341,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3886G>C",
"hgvs_p": "p.Asp1296His",
"transcript": "NM_001440971.1",
"protein_id": "NP_001427900.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3886,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 4262,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3877G>C",
"hgvs_p": "p.Asp1293His",
"transcript": "NM_001440972.1",
"protein_id": "NP_001427901.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3877,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 4500,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3835G>C",
"hgvs_p": "p.Asp1279His",
"transcript": "NM_001440973.1",
"protein_id": "NP_001427902.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3835,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 4287,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3835G>C",
"hgvs_p": "p.Asp1279His",
"transcript": "NM_001440974.1",
"protein_id": "NP_001427903.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3835,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 4211,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3835G>C",
"hgvs_p": "p.Asp1279His",
"transcript": "NM_001440975.1",
"protein_id": "NP_001427904.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3835,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3983,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3832G>C",
"hgvs_p": "p.Asp1278His",
"transcript": "NM_001440976.1",
"protein_id": "NP_001427905.1",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3832,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4284,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3832G>C",
"hgvs_p": "p.Asp1278His",
"transcript": "NM_001440977.1",
"protein_id": "NP_001427906.1",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3832,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4208,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3826G>C",
"hgvs_p": "p.Asp1276His",
"transcript": "NM_001440978.1",
"protein_id": "NP_001427907.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3826,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3974,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3811G>C",
"hgvs_p": "p.Asp1271His",
"transcript": "NM_001440979.1",
"protein_id": "NP_001427908.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 4187,
"cdna_end": null,
"cdna_length": 5608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3811G>C",
"hgvs_p": "p.Asp1271His",
"transcript": "NM_001440980.1",
"protein_id": "NP_001427909.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3883,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3811G>C",
"hgvs_p": "p.Asp1271His",
"transcript": "NM_001440981.1",
"protein_id": "NP_001427910.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3959,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3808G>C",
"hgvs_p": "p.Asp1270His",
"transcript": "NM_001440982.1",
"protein_id": "NP_001427911.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3808,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 4260,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3748G>C",
"hgvs_p": "p.Asp1250His",
"transcript": "NM_001440983.1",
"protein_id": "NP_001427912.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3748,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 4124,
"cdna_end": null,
"cdna_length": 5545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3703G>C",
"hgvs_p": "p.Asp1235His",
"transcript": "NM_001440984.1",
"protein_id": "NP_001427913.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3703,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3685G>C",
"hgvs_p": "p.Asp1229His",
"transcript": "NM_001440987.1",
"protein_id": "NP_001427916.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1335,
"cds_start": 3685,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 4137,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3676G>C",
"hgvs_p": "p.Asp1226His",
"transcript": "NM_001440990.1",
"protein_id": "NP_001427919.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3676,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3625G>C",
"hgvs_p": "p.Asp1209His",
"transcript": "NM_001440992.1",
"protein_id": "NP_001427921.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3625,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 4077,
"cdna_end": null,
"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5806G>C",
"hgvs_p": "p.Asp1936His",
"transcript": "XM_011542674.2",
"protein_id": "XP_011540976.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2042,
"cds_start": 5806,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 6258,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5806G>C",
"hgvs_p": "p.Asp1936His",
"transcript": "XM_017017367.2",
"protein_id": "XP_016872856.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2042,
"cds_start": 5806,
"cds_end": null,
"cds_length": 6129,
"cdna_start": 6182,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5803G>C",
"hgvs_p": "p.Asp1935His",
"transcript": "XM_017017368.2",
"protein_id": "XP_016872857.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2041,
"cds_start": 5803,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 7676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5782G>C",
"hgvs_p": "p.Asp1928His",
"transcript": "XM_017017369.2",
"protein_id": "XP_016872858.1",
"transcript_support_level": null,
"aa_start": 1928,
"aa_end": null,
"aa_length": 2034,
"cds_start": 5782,
"cds_end": null,
"cds_length": 6105,
"cdna_start": 6234,
"cdna_end": null,
"cdna_length": 7655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5779G>C",
"hgvs_p": "p.Asp1927His",
"transcript": "XM_017017370.2",
"protein_id": "XP_016872859.1",
"transcript_support_level": null,
"aa_start": 1927,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5779,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 6231,
"cdna_end": null,
"cdna_length": 7652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5755G>C",
"hgvs_p": "p.Asp1919His",
"transcript": "XM_006718788.2",
"protein_id": "XP_006718851.1",
"transcript_support_level": null,
"aa_start": 1919,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5755,
"cds_end": null,
"cds_length": 6078,
"cdna_start": 6207,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5746G>C",
"hgvs_p": "p.Asp1916His",
"transcript": "XM_005271453.2",
"protein_id": "XP_005271510.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2022,
"cds_start": 5746,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 6198,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5743G>C",
"hgvs_p": "p.Asp1915His",
"transcript": "XM_047426569.1",
"protein_id": "XP_047282525.1",
"transcript_support_level": null,
"aa_start": 1915,
"aa_end": null,
"aa_length": 2021,
"cds_start": 5743,
"cds_end": null,
"cds_length": 6066,
"cdna_start": 6195,
"cdna_end": null,
"cdna_length": 7616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5731G>C",
"hgvs_p": "p.Asp1911His",
"transcript": "XM_047426570.1",
"protein_id": "XP_047282526.1",
"transcript_support_level": null,
"aa_start": 1911,
"aa_end": null,
"aa_length": 2017,
"cds_start": 5731,
"cds_end": null,
"cds_length": 6054,
"cdna_start": 6183,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5728G>C",
"hgvs_p": "p.Asp1910His",
"transcript": "XM_017017371.2",
"protein_id": "XP_016872860.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 2016,
"cds_start": 5728,
"cds_end": null,
"cds_length": 6051,
"cdna_start": 6180,
"cdna_end": null,
"cdna_length": 7601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5722G>C",
"hgvs_p": "p.Asp1908His",
"transcript": "XM_047426571.1",
"protein_id": "XP_047282527.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2014,
"cds_start": 5722,
"cds_end": null,
"cds_length": 6045,
"cdna_start": 6174,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5719G>C",
"hgvs_p": "p.Asp1907His",
"transcript": "XM_047426572.1",
"protein_id": "XP_047282528.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 2013,
"cds_start": 5719,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 6171,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5668G>C",
"hgvs_p": "p.Asp1890His",
"transcript": "XM_017017372.2",
"protein_id": "XP_016872861.1",
"transcript_support_level": null,
"aa_start": 1890,
"aa_end": null,
"aa_length": 1996,
"cds_start": 5668,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 6120,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5665G>C",
"hgvs_p": "p.Asp1889His",
"transcript": "XM_047426573.1",
"protein_id": "XP_047282529.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 1995,
"cds_start": 5665,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 6117,
"cdna_end": null,
"cdna_length": 7538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5656G>C",
"hgvs_p": "p.Asp1886His",
"transcript": "XM_047426574.1",
"protein_id": "XP_047282530.1",
"transcript_support_level": null,
"aa_start": 1886,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5656,
"cds_end": null,
"cds_length": 5979,
"cdna_start": 6108,
"cdna_end": null,
"cdna_length": 7529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5644G>C",
"hgvs_p": "p.Asp1882His",
"transcript": "XM_047426575.1",
"protein_id": "XP_047282531.1",
"transcript_support_level": null,
"aa_start": 1882,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5644,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 6096,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5635G>C",
"hgvs_p": "p.Asp1879His",
"transcript": "XM_047426576.1",
"protein_id": "XP_047282532.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5635,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 6087,
"cdna_end": null,
"cdna_length": 7508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.5806G>C",
"hgvs_p": "p.Asp1936His",
"transcript": "XM_047426577.1",
"protein_id": "XP_047282533.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 1977,
"cds_start": 5806,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 6258,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5608G>C",
"hgvs_p": "p.Asp1870His",
"transcript": "XM_047426578.1",
"protein_id": "XP_047282534.1",
"transcript_support_level": null,
"aa_start": 1870,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5608,
"cds_end": null,
"cds_length": 5931,
"cdna_start": 6060,
"cdna_end": null,
"cdna_length": 7481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5599G>C",
"hgvs_p": "p.Asp1867His",
"transcript": "XM_047426579.1",
"protein_id": "XP_047282535.1",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 1973,
"cds_start": 5599,
"cds_end": null,
"cds_length": 5922,
"cdna_start": 6051,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5596G>C",
"hgvs_p": "p.Asp1866His",
"transcript": "XM_047426580.1",
"protein_id": "XP_047282536.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5596,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 6048,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5584G>C",
"hgvs_p": "p.Asp1862His",
"transcript": "XM_047426581.1",
"protein_id": "XP_047282537.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 1968,
"cds_start": 5584,
"cds_end": null,
"cds_length": 5907,
"cdna_start": 6036,
"cdna_end": null,
"cdna_length": 7457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5581G>C",
"hgvs_p": "p.Asp1861His",
"transcript": "XM_047426582.1",
"protein_id": "XP_047282538.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 1967,
"cds_start": 5581,
"cds_end": null,
"cds_length": 5904,
"cdna_start": 6033,
"cdna_end": null,
"cdna_length": 7454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5575G>C",
"hgvs_p": "p.Asp1859His",
"transcript": "XM_047426583.1",
"protein_id": "XP_047282539.1",
"transcript_support_level": null,
"aa_start": 1859,
"aa_end": null,
"aa_length": 1965,
"cds_start": 5575,
"cds_end": null,
"cds_length": 5898,
"cdna_start": 6027,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.5572G>C",
"hgvs_p": "p.Asp1858His",
"transcript": "XM_047426584.1",
"protein_id": "XP_047282540.1",
"transcript_support_level": null,
"aa_start": 1858,
"aa_end": null,
"aa_length": 1964,
"cds_start": 5572,
"cds_end": null,
"cds_length": 5895,
"cdna_start": 6024,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4045G>C",
"hgvs_p": "p.Asp1349His",
"transcript": "XM_005271457.2",
"protein_id": "XP_005271514.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4045,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4497,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.4033G>C",
"hgvs_p": "p.Asp1345His",
"transcript": "XM_047426588.1",
"protein_id": "XP_047282544.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4485,
"cdna_end": null,
"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3988G>C",
"hgvs_p": "p.Asp1330His",
"transcript": "XM_047426589.1",
"protein_id": "XP_047282545.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3988,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 4440,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3967G>C",
"hgvs_p": "p.Asp1323His",
"transcript": "XM_047426590.1",
"protein_id": "XP_047282546.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3967,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4419,
"cdna_end": null,
"cdna_length": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3886G>C",
"hgvs_p": "p.Asp1296His",
"transcript": "XM_047426598.1",
"protein_id": "XP_047282554.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3886,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 4338,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3844G>C",
"hgvs_p": "p.Asp1282His",
"transcript": "XM_047426599.1",
"protein_id": "XP_047282555.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3844,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3811G>C",
"hgvs_p": "p.Asp1271His",
"transcript": "XM_047426604.1",
"protein_id": "XP_047282560.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 4263,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.913G>C",
"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
},
{
"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": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.118G>C",
"hgvs_p": null,
"transcript": "ENST00000532187.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 658,
"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": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.4263G>C",
"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": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.3614G>C",
"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
}
],
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"dbsnp": "rs200520898",
"frequency_reference_population": 6.8405257e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-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": 0.38488107919692993,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.4014,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.645,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000278935.8",
"gene_symbol": "CEP164",
"hgnc_id": 29182,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4060G>C",
"hgvs_p": "p.Asp1354His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}