← 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: 1-3836504-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3836504&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3836504,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_014704.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "NM_014704.4",
"protein_id": "NP_055519.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": "ENST00000378230.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014704.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000378230.8",
"protein_id": "ENSP00000367476.3",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": "NM_014704.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378230.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000494653.5",
"protein_id": "ENSP00000501736.1",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 554,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494653.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000675666.1",
"protein_id": "ENSP00000502548.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 964,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675666.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1326A>G",
"hgvs_p": "p.Gly442Gly",
"transcript": "ENST00000676052.1",
"protein_id": "ENSP00000502793.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 931,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676052.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000674558.1",
"protein_id": "ENSP00000501829.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674558.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000674623.1",
"protein_id": "ENSP00000501733.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674623.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000894371.1",
"protein_id": "ENSP00000564430.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894371.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000894372.1",
"protein_id": "ENSP00000564431.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894372.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000923947.1",
"protein_id": "ENSP00000594006.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 925,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923947.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Gly378Gly",
"transcript": "ENST00000923946.1",
"protein_id": "ENSP00000594005.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 923,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923946.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000428079.6",
"protein_id": "ENSP00000394989.2",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 893,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428079.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Gly378Gly",
"transcript": "ENST00000674544.1",
"protein_id": "ENSP00000502641.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 867,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674544.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Gly378Gly",
"transcript": "ENST00000675375.1",
"protein_id": "ENSP00000502180.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 867,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675375.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Gly378Gly",
"transcript": "ENST00000894373.1",
"protein_id": "ENSP00000564432.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 867,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894373.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000461667.2",
"protein_id": "ENSP00000463605.2",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 866,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461667.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000955290.1",
"protein_id": "ENSP00000625349.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 856,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955290.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1434A>G",
"hgvs_p": "p.Gly478Gly",
"transcript": "XM_024451101.2",
"protein_id": "XP_024306869.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 967,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 6577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451101.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1416A>G",
"hgvs_p": "p.Gly472Gly",
"transcript": "XM_005244815.5",
"protein_id": "XP_005244872.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 961,
"cds_start": 1416,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244815.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1260A>G",
"hgvs_p": "p.Gly420Gly",
"transcript": "XM_024451102.2",
"protein_id": "XP_024306870.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 909,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451102.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1242A>G",
"hgvs_p": "p.Gly414Gly",
"transcript": "XM_047435158.1",
"protein_id": "XP_047291114.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 903,
"cds_start": 1242,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435158.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1434A>G",
"hgvs_p": "p.Gly478Gly",
"transcript": "XM_024451108.2",
"protein_id": "XP_024306876.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 777,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451108.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1119+788A>G",
"hgvs_p": null,
"transcript": "ENST00000675677.1",
"protein_id": "ENSP00000501944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": null,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675677.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1119+788A>G",
"hgvs_p": null,
"transcript": "ENST00000923945.1",
"protein_id": "ENSP00000594004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": null,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1119+788A>G",
"hgvs_p": null,
"transcript": "ENST00000955291.1",
"protein_id": "ENSP00000625350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1245+788A>G",
"hgvs_p": null,
"transcript": "XM_024451104.2",
"protein_id": "XP_024306872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 901,
"cds_start": null,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451104.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1227+788A>G",
"hgvs_p": null,
"transcript": "XM_047435161.1",
"protein_id": "XP_047291117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.1071+788A>G",
"hgvs_p": null,
"transcript": "XM_024451106.2",
"protein_id": "XP_024306874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": null,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451106.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.2244A>G",
"hgvs_p": null,
"transcript": "ENST00000674879.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7030,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000674879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*166A>G",
"hgvs_p": null,
"transcript": "ENST00000674985.1",
"protein_id": "ENSP00000502482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*1224A>G",
"hgvs_p": null,
"transcript": "ENST00000675108.1",
"protein_id": "ENSP00000502131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.1134A>G",
"hgvs_p": null,
"transcript": "ENST00000675200.1",
"protein_id": "ENSP00000502512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.1112A>G",
"hgvs_p": null,
"transcript": "ENST00000675334.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*637A>G",
"hgvs_p": null,
"transcript": "ENST00000675750.1",
"protein_id": "ENSP00000502342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.2980A>G",
"hgvs_p": null,
"transcript": "ENST00000675966.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7766,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675966.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.1308A>G",
"hgvs_p": null,
"transcript": "ENST00000676009.1",
"protein_id": "ENSP00000502246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*166A>G",
"hgvs_p": null,
"transcript": "ENST00000674985.1",
"protein_id": "ENSP00000502482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*1224A>G",
"hgvs_p": null,
"transcript": "ENST00000675108.1",
"protein_id": "ENSP00000502131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*637A>G",
"hgvs_p": null,
"transcript": "ENST00000675750.1",
"protein_id": "ENSP00000502342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.364+285A>G",
"hgvs_p": null,
"transcript": "ENST00000438539.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000438539.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.222+411A>G",
"hgvs_p": null,
"transcript": "ENST00000460038.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460038.5"
}
],
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"dbsnp": "rs148455387",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.004,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_014704.4",
"gene_symbol": "CEP104",
"hgnc_id": 24866,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1308A>G",
"hgvs_p": "p.Gly436Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}