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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: 14-80530886-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=80530886&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 80530886,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_152446.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "NM_152446.5",
"protein_id": "NP_689659.2",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555265.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152446.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "ENST00000555265.6",
"protein_id": "ENSP00000451162.1",
"transcript_support_level": 5,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152446.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555265.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "ENST00000281129.7",
"protein_id": "ENSP00000281129.3",
"transcript_support_level": 1,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281129.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2971A>G",
"hgvs_p": "p.Ser991Gly",
"transcript": "ENST00000947694.1",
"protein_id": "ENSP00000617753.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947694.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "ENST00000933391.1",
"protein_id": "ENSP00000603450.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933391.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "ENST00000933392.1",
"protein_id": "ENSP00000603451.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933392.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2716A>G",
"hgvs_p": "p.Ser906Gly",
"transcript": "ENST00000933395.1",
"protein_id": "ENSP00000603454.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2716,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933395.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2470A>G",
"hgvs_p": "p.Ser824Gly",
"transcript": "ENST00000933394.1",
"protein_id": "ENSP00000603453.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 957,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933394.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2230A>G",
"hgvs_p": "p.Ser744Gly",
"transcript": "ENST00000933393.1",
"protein_id": "ENSP00000603452.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 877,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933393.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ser236Gly",
"transcript": "ENST00000907054.1",
"protein_id": "ENSP00000577113.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 369,
"cds_start": 706,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907054.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.76A>G",
"hgvs_p": "p.Ser26Gly",
"transcript": "ENST00000556061.5",
"protein_id": "ENSP00000451501.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 159,
"cds_start": 76,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556061.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2971A>G",
"hgvs_p": "p.Ser991Gly",
"transcript": "XM_011536491.3",
"protein_id": "XP_011534793.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536491.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2971A>G",
"hgvs_p": "p.Ser991Gly",
"transcript": "XM_011536492.3",
"protein_id": "XP_011534794.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536492.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "XM_047431018.1",
"protein_id": "XP_047286974.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431018.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "XM_047431019.1",
"protein_id": "XP_047286975.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431019.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "XM_047431020.1",
"protein_id": "XP_047286976.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431020.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "XM_047431021.1",
"protein_id": "XP_047286977.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431021.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "XM_047431022.1",
"protein_id": "XP_047286978.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431022.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2971A>G",
"hgvs_p": "p.Ser991Gly",
"transcript": "XM_011536493.3",
"protein_id": "XP_011534795.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536493.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly",
"transcript": "XM_047431023.1",
"protein_id": "XP_047286979.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431023.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3125A>G",
"hgvs_p": "p.Glu1042Gly",
"transcript": "XM_047431025.1",
"protein_id": "XP_047286981.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3125,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431025.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
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"hgvs_c": "c.3035A>G",
"hgvs_p": "p.Glu1012Gly",
"transcript": "XM_047431026.1",
"protein_id": "XP_047286982.1",
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"aa_start": 1012,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431026.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CEP128",
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"hgvs_c": "c.2545A>G",
"hgvs_p": "p.Ser849Gly",
"transcript": "XM_047431027.1",
"protein_id": "XP_047286983.1",
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"aa_start": 849,
"aa_end": null,
"aa_length": 982,
"cds_start": 2545,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431027.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Ser589Gly",
"transcript": "XM_017021043.2",
"protein_id": "XP_016876532.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 722,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021043.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.115A>G",
"hgvs_p": null,
"transcript": "ENST00000553717.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.1954A>G",
"hgvs_p": null,
"transcript": "ENST00000554502.5",
"protein_id": "ENSP00000451319.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.75A>G",
"hgvs_p": null,
"transcript": "ENST00000557377.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000557377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.3674A>G",
"hgvs_p": null,
"transcript": "NR_157142.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157142.2"
}
],
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"dbsnp": "rs1361016514",
"frequency_reference_population": 0.000006571079,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.649053692817688,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.550000011920929,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.1838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.566,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.702652407583483,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152446.5",
"gene_symbol": "CEP128",
"hgnc_id": 20359,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2881A>G",
"hgvs_p": "p.Ser961Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}