← 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: 4-103108993-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=103108993&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 103108993,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001813.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7821G>T",
"hgvs_p": "p.Lys2607Asn",
"transcript": "NM_001813.3",
"protein_id": "NP_001804.2",
"transcript_support_level": null,
"aa_start": 2607,
"aa_end": null,
"aa_length": 2701,
"cds_start": 7821,
"cds_end": null,
"cds_length": 8106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265148.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001813.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7821G>T",
"hgvs_p": "p.Lys2607Asn",
"transcript": "ENST00000265148.9",
"protein_id": "ENSP00000265148.3",
"transcript_support_level": 2,
"aa_start": 2607,
"aa_end": null,
"aa_length": 2701,
"cds_start": 7821,
"cds_end": null,
"cds_length": 8106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001813.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265148.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7458G>T",
"hgvs_p": "p.Lys2486Asn",
"transcript": "ENST00000380026.8",
"protein_id": "ENSP00000369365.3",
"transcript_support_level": 1,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2580,
"cds_start": 7458,
"cds_end": null,
"cds_length": 7743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380026.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7824G>T",
"hgvs_p": "p.Lys2608Asn",
"transcript": "ENST00000933323.1",
"protein_id": "ENSP00000603382.1",
"transcript_support_level": null,
"aa_start": 2608,
"aa_end": null,
"aa_length": 2702,
"cds_start": 7824,
"cds_end": null,
"cds_length": 8109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933323.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7746G>T",
"hgvs_p": "p.Lys2582Asn",
"transcript": "ENST00000933319.1",
"protein_id": "ENSP00000603378.1",
"transcript_support_level": null,
"aa_start": 2582,
"aa_end": null,
"aa_length": 2676,
"cds_start": 7746,
"cds_end": null,
"cds_length": 8031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933319.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7533G>T",
"hgvs_p": "p.Lys2511Asn",
"transcript": "ENST00000933321.1",
"protein_id": "ENSP00000603380.1",
"transcript_support_level": null,
"aa_start": 2511,
"aa_end": null,
"aa_length": 2605,
"cds_start": 7533,
"cds_end": null,
"cds_length": 7818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933321.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7530G>T",
"hgvs_p": "p.Lys2510Asn",
"transcript": "ENST00000933320.1",
"protein_id": "ENSP00000603379.1",
"transcript_support_level": null,
"aa_start": 2510,
"aa_end": null,
"aa_length": 2604,
"cds_start": 7530,
"cds_end": null,
"cds_length": 7815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933320.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7458G>T",
"hgvs_p": "p.Lys2486Asn",
"transcript": "NM_001286734.2",
"protein_id": "NP_001273663.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2580,
"cds_start": 7458,
"cds_end": null,
"cds_length": 7743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286734.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7455G>T",
"hgvs_p": "p.Lys2485Asn",
"transcript": "ENST00000933322.1",
"protein_id": "ENSP00000603381.1",
"transcript_support_level": null,
"aa_start": 2485,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7455,
"cds_end": null,
"cds_length": 7740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933322.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7296G>T",
"hgvs_p": "p.Lys2432Asn",
"transcript": "ENST00000933324.1",
"protein_id": "ENSP00000603383.1",
"transcript_support_level": null,
"aa_start": 2432,
"aa_end": null,
"aa_length": 2526,
"cds_start": 7296,
"cds_end": null,
"cds_length": 7581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933324.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7131G>T",
"hgvs_p": "p.Lys2377Asn",
"transcript": "ENST00000960876.1",
"protein_id": "ENSP00000630935.1",
"transcript_support_level": null,
"aa_start": 2377,
"aa_end": null,
"aa_length": 2471,
"cds_start": 7131,
"cds_end": null,
"cds_length": 7416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960876.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7746G>T",
"hgvs_p": "p.Lys2582Asn",
"transcript": "XM_011531544.3",
"protein_id": "XP_011529846.1",
"transcript_support_level": null,
"aa_start": 2582,
"aa_end": null,
"aa_length": 2676,
"cds_start": 7746,
"cds_end": null,
"cds_length": 8031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531544.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7662G>T",
"hgvs_p": "p.Lys2554Asn",
"transcript": "XM_011531545.3",
"protein_id": "XP_011529847.1",
"transcript_support_level": null,
"aa_start": 2554,
"aa_end": null,
"aa_length": 2648,
"cds_start": 7662,
"cds_end": null,
"cds_length": 7947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531545.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7617G>T",
"hgvs_p": "p.Lys2539Asn",
"transcript": "XM_011531546.4",
"protein_id": "XP_011529848.1",
"transcript_support_level": null,
"aa_start": 2539,
"aa_end": null,
"aa_length": 2633,
"cds_start": 7617,
"cds_end": null,
"cds_length": 7902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531546.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7587G>T",
"hgvs_p": "p.Lys2529Asn",
"transcript": "XM_047449533.1",
"protein_id": "XP_047305489.1",
"transcript_support_level": null,
"aa_start": 2529,
"aa_end": null,
"aa_length": 2623,
"cds_start": 7587,
"cds_end": null,
"cds_length": 7872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449533.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7542G>T",
"hgvs_p": "p.Lys2514Asn",
"transcript": "XM_047449534.1",
"protein_id": "XP_047305490.1",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2608,
"cds_start": 7542,
"cds_end": null,
"cds_length": 7827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449534.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7533G>T",
"hgvs_p": "p.Lys2511Asn",
"transcript": "XM_011531547.3",
"protein_id": "XP_011529849.1",
"transcript_support_level": null,
"aa_start": 2511,
"aa_end": null,
"aa_length": 2605,
"cds_start": 7533,
"cds_end": null,
"cds_length": 7818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531547.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7530G>T",
"hgvs_p": "p.Lys2510Asn",
"transcript": "XM_011531548.3",
"protein_id": "XP_011529850.1",
"transcript_support_level": null,
"aa_start": 2510,
"aa_end": null,
"aa_length": 2604,
"cds_start": 7530,
"cds_end": null,
"cds_length": 7815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531548.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7458G>T",
"hgvs_p": "p.Lys2486Asn",
"transcript": "XM_047449535.1",
"protein_id": "XP_047305491.1",
"transcript_support_level": null,
"aa_start": 2486,
"aa_end": null,
"aa_length": 2580,
"cds_start": 7458,
"cds_end": null,
"cds_length": 7743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449535.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7455G>T",
"hgvs_p": "p.Lys2485Asn",
"transcript": "XM_047449536.1",
"protein_id": "XP_047305492.1",
"transcript_support_level": null,
"aa_start": 2485,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7455,
"cds_end": null,
"cds_length": 7740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449536.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7377G>T",
"hgvs_p": "p.Lys2459Asn",
"transcript": "XM_011531549.3",
"protein_id": "XP_011529851.1",
"transcript_support_level": null,
"aa_start": 2459,
"aa_end": null,
"aa_length": 2553,
"cds_start": 7377,
"cds_end": null,
"cds_length": 7662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531549.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7374G>T",
"hgvs_p": "p.Lys2458Asn",
"transcript": "XM_047449538.1",
"protein_id": "XP_047305494.1",
"transcript_support_level": null,
"aa_start": 2458,
"aa_end": null,
"aa_length": 2552,
"cds_start": 7374,
"cds_end": null,
"cds_length": 7659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449538.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7371G>T",
"hgvs_p": "p.Lys2457Asn",
"transcript": "XM_017007659.2",
"protein_id": "XP_016863148.1",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2551,
"cds_start": 7371,
"cds_end": null,
"cds_length": 7656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007659.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7329G>T",
"hgvs_p": "p.Lys2443Asn",
"transcript": "XM_047449539.1",
"protein_id": "XP_047305495.1",
"transcript_support_level": null,
"aa_start": 2443,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7329,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449539.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7326G>T",
"hgvs_p": "p.Lys2442Asn",
"transcript": "XM_047449540.1",
"protein_id": "XP_047305496.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 2536,
"cds_start": 7326,
"cds_end": null,
"cds_length": 7611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449540.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7296G>T",
"hgvs_p": "p.Lys2432Asn",
"transcript": "XM_047449541.1",
"protein_id": "XP_047305497.1",
"transcript_support_level": null,
"aa_start": 2432,
"aa_end": null,
"aa_length": 2526,
"cds_start": 7296,
"cds_end": null,
"cds_length": 7581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449541.1"
}
],
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"dbsnp": "rs756931328",
"frequency_reference_population": 0.0000020525956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020526,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11020016670227051,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.2051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.275,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001813.3",
"gene_symbol": "CENPE",
"hgnc_id": 1856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.7821G>T",
"hgvs_p": "p.Lys2607Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}