← 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: 14-80504986-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=80504986&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 80504986,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152446.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "NM_152446.5",
"protein_id": "NP_689659.2",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "ENST00000555265.6",
"protein_id": "ENSP00000451162.1",
"transcript_support_level": 5,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "ENST00000281129.7",
"protein_id": "ENSP00000281129.3",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3197G>T",
"hgvs_p": "p.Arg1066Leu",
"transcript": "ENST00000947694.1",
"protein_id": "ENSP00000617753.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3197,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "ENST00000933391.1",
"protein_id": "ENSP00000603450.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "ENST00000933392.1",
"protein_id": "ENSP00000603451.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2942G>T",
"hgvs_p": "p.Arg981Leu",
"transcript": "ENST00000933395.1",
"protein_id": "ENSP00000603454.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2942,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2696G>T",
"hgvs_p": "p.Arg899Leu",
"transcript": "ENST00000933394.1",
"protein_id": "ENSP00000603453.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 957,
"cds_start": 2696,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2456G>T",
"hgvs_p": "p.Arg819Leu",
"transcript": "ENST00000933393.1",
"protein_id": "ENSP00000603452.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 877,
"cds_start": 2456,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.932G>T",
"hgvs_p": "p.Arg311Leu",
"transcript": "ENST00000907054.1",
"protein_id": "ENSP00000577113.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 369,
"cds_start": 932,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Arg101Leu",
"transcript": "ENST00000556061.5",
"protein_id": "ENSP00000451501.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 159,
"cds_start": 302,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3197G>T",
"hgvs_p": "p.Arg1066Leu",
"transcript": "XM_011536491.3",
"protein_id": "XP_011534793.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3197,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3197G>T",
"hgvs_p": "p.Arg1066Leu",
"transcript": "XM_011536492.3",
"protein_id": "XP_011534794.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3197,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "XM_047431018.1",
"protein_id": "XP_047286974.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "XM_047431019.1",
"protein_id": "XP_047286975.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "XM_047431020.1",
"protein_id": "XP_047286976.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "XM_047431021.1",
"protein_id": "XP_047286977.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "XM_047431022.1",
"protein_id": "XP_047286978.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3197G>T",
"hgvs_p": "p.Arg1066Leu",
"transcript": "XM_011536493.3",
"protein_id": "XP_011534795.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3197,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu",
"transcript": "XM_047431023.1",
"protein_id": "XP_047286979.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3107,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.2771G>T",
"hgvs_p": "p.Arg924Leu",
"transcript": "XM_047431027.1",
"protein_id": "XP_047286983.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 982,
"cds_start": 2771,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "c.1991G>T",
"hgvs_p": "p.Arg664Leu",
"transcript": "XM_017021043.2",
"protein_id": "XP_016876532.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 722,
"cds_start": 1991,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.341G>T",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.*236G>T",
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.3900G>T",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"hgvs_c": "n.*236G>T",
"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"
}
],
"gene_symbol": "CEP128",
"gene_hgnc_id": 20359,
"dbsnp": "rs150831081",
"frequency_reference_population": 6.9047326e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90473e-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": 0.07230275869369507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.207,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152446.5",
"gene_symbol": "CEP128",
"hgnc_id": 20359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3107G>T",
"hgvs_p": "p.Arg1036Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}