← 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: 4-103123040-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=103123040&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 103123040,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001813.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6974C>G",
"hgvs_p": "p.Ser2325Cys",
"transcript": "NM_001813.3",
"protein_id": "NP_001804.2",
"transcript_support_level": null,
"aa_start": 2325,
"aa_end": null,
"aa_length": 2701,
"cds_start": 6974,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 6998,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "ENST00000265148.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001813.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6974C>G",
"hgvs_p": "p.Ser2325Cys",
"transcript": "ENST00000265148.9",
"protein_id": "ENSP00000265148.3",
"transcript_support_level": 2,
"aa_start": 2325,
"aa_end": null,
"aa_length": 2701,
"cds_start": 6974,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 6998,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "NM_001813.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265148.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6611C>G",
"hgvs_p": "p.Ser2204Cys",
"transcript": "ENST00000380026.8",
"protein_id": "ENSP00000369365.3",
"transcript_support_level": 1,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2580,
"cds_start": 6611,
"cds_end": null,
"cds_length": 7743,
"cdna_start": 6737,
"cdna_end": null,
"cdna_length": 8742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380026.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6977C>G",
"hgvs_p": "p.Ser2326Cys",
"transcript": "ENST00000933323.1",
"protein_id": "ENSP00000603382.1",
"transcript_support_level": null,
"aa_start": 2326,
"aa_end": null,
"aa_length": 2702,
"cds_start": 6977,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 7007,
"cdna_end": null,
"cdna_length": 8550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933323.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6899C>G",
"hgvs_p": "p.Ser2300Cys",
"transcript": "ENST00000933319.1",
"protein_id": "ENSP00000603378.1",
"transcript_support_level": null,
"aa_start": 2300,
"aa_end": null,
"aa_length": 2676,
"cds_start": 6899,
"cds_end": null,
"cds_length": 8031,
"cdna_start": 6988,
"cdna_end": null,
"cdna_length": 8536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933319.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6686C>G",
"hgvs_p": "p.Ser2229Cys",
"transcript": "ENST00000933321.1",
"protein_id": "ENSP00000603380.1",
"transcript_support_level": null,
"aa_start": 2229,
"aa_end": null,
"aa_length": 2605,
"cds_start": 6686,
"cds_end": null,
"cds_length": 7818,
"cdna_start": 6750,
"cdna_end": null,
"cdna_length": 8297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933321.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6683C>G",
"hgvs_p": "p.Ser2228Cys",
"transcript": "ENST00000933320.1",
"protein_id": "ENSP00000603379.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2604,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7815,
"cdna_start": 6754,
"cdna_end": null,
"cdna_length": 8297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933320.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6611C>G",
"hgvs_p": "p.Ser2204Cys",
"transcript": "NM_001286734.2",
"protein_id": "NP_001273663.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2580,
"cds_start": 6611,
"cds_end": null,
"cds_length": 7743,
"cdna_start": 6635,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286734.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6608C>G",
"hgvs_p": "p.Ser2203Cys",
"transcript": "ENST00000933322.1",
"protein_id": "ENSP00000603381.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2579,
"cds_start": 6608,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 6672,
"cdna_end": null,
"cdna_length": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933322.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6449C>G",
"hgvs_p": "p.Ser2150Cys",
"transcript": "ENST00000933324.1",
"protein_id": "ENSP00000603383.1",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2526,
"cds_start": 6449,
"cds_end": null,
"cds_length": 7581,
"cdna_start": 6511,
"cdna_end": null,
"cdna_length": 8001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933324.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6284C>G",
"hgvs_p": "p.Ser2095Cys",
"transcript": "ENST00000960876.1",
"protein_id": "ENSP00000630935.1",
"transcript_support_level": null,
"aa_start": 2095,
"aa_end": null,
"aa_length": 2471,
"cds_start": 6284,
"cds_end": null,
"cds_length": 7416,
"cdna_start": 6428,
"cdna_end": null,
"cdna_length": 7967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960876.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6899C>G",
"hgvs_p": "p.Ser2300Cys",
"transcript": "XM_011531544.3",
"protein_id": "XP_011529846.1",
"transcript_support_level": null,
"aa_start": 2300,
"aa_end": null,
"aa_length": 2676,
"cds_start": 6899,
"cds_end": null,
"cds_length": 8031,
"cdna_start": 6923,
"cdna_end": null,
"cdna_length": 8466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531544.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6815C>G",
"hgvs_p": "p.Ser2272Cys",
"transcript": "XM_011531545.3",
"protein_id": "XP_011529847.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 2648,
"cds_start": 6815,
"cds_end": null,
"cds_length": 7947,
"cdna_start": 6839,
"cdna_end": null,
"cdna_length": 8382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531545.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6770C>G",
"hgvs_p": "p.Ser2257Cys",
"transcript": "XM_011531546.4",
"protein_id": "XP_011529848.1",
"transcript_support_level": null,
"aa_start": 2257,
"aa_end": null,
"aa_length": 2633,
"cds_start": 6770,
"cds_end": null,
"cds_length": 7902,
"cdna_start": 6794,
"cdna_end": null,
"cdna_length": 8337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531546.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6740C>G",
"hgvs_p": "p.Ser2247Cys",
"transcript": "XM_047449533.1",
"protein_id": "XP_047305489.1",
"transcript_support_level": null,
"aa_start": 2247,
"aa_end": null,
"aa_length": 2623,
"cds_start": 6740,
"cds_end": null,
"cds_length": 7872,
"cdna_start": 6764,
"cdna_end": null,
"cdna_length": 8307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449533.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6695C>G",
"hgvs_p": "p.Ser2232Cys",
"transcript": "XM_047449534.1",
"protein_id": "XP_047305490.1",
"transcript_support_level": null,
"aa_start": 2232,
"aa_end": null,
"aa_length": 2608,
"cds_start": 6695,
"cds_end": null,
"cds_length": 7827,
"cdna_start": 6719,
"cdna_end": null,
"cdna_length": 8262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449534.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6686C>G",
"hgvs_p": "p.Ser2229Cys",
"transcript": "XM_011531547.3",
"protein_id": "XP_011529849.1",
"transcript_support_level": null,
"aa_start": 2229,
"aa_end": null,
"aa_length": 2605,
"cds_start": 6686,
"cds_end": null,
"cds_length": 7818,
"cdna_start": 6710,
"cdna_end": null,
"cdna_length": 8253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531547.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6683C>G",
"hgvs_p": "p.Ser2228Cys",
"transcript": "XM_011531548.3",
"protein_id": "XP_011529850.1",
"transcript_support_level": null,
"aa_start": 2228,
"aa_end": null,
"aa_length": 2604,
"cds_start": 6683,
"cds_end": null,
"cds_length": 7815,
"cdna_start": 6707,
"cdna_end": null,
"cdna_length": 8250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531548.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6611C>G",
"hgvs_p": "p.Ser2204Cys",
"transcript": "XM_047449535.1",
"protein_id": "XP_047305491.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2580,
"cds_start": 6611,
"cds_end": null,
"cds_length": 7743,
"cdna_start": 6635,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449535.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6608C>G",
"hgvs_p": "p.Ser2203Cys",
"transcript": "XM_047449536.1",
"protein_id": "XP_047305492.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2579,
"cds_start": 6608,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 6632,
"cdna_end": null,
"cdna_length": 8175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449536.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6530C>G",
"hgvs_p": "p.Ser2177Cys",
"transcript": "XM_011531549.3",
"protein_id": "XP_011529851.1",
"transcript_support_level": null,
"aa_start": 2177,
"aa_end": null,
"aa_length": 2553,
"cds_start": 6530,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 6554,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531549.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6527C>G",
"hgvs_p": "p.Ser2176Cys",
"transcript": "XM_047449538.1",
"protein_id": "XP_047305494.1",
"transcript_support_level": null,
"aa_start": 2176,
"aa_end": null,
"aa_length": 2552,
"cds_start": 6527,
"cds_end": null,
"cds_length": 7659,
"cdna_start": 6551,
"cdna_end": null,
"cdna_length": 8094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449538.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6524C>G",
"hgvs_p": "p.Ser2175Cys",
"transcript": "XM_017007659.2",
"protein_id": "XP_016863148.1",
"transcript_support_level": null,
"aa_start": 2175,
"aa_end": null,
"aa_length": 2551,
"cds_start": 6524,
"cds_end": null,
"cds_length": 7656,
"cdna_start": 6548,
"cdna_end": null,
"cdna_length": 8091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007659.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6482C>G",
"hgvs_p": "p.Ser2161Cys",
"transcript": "XM_047449539.1",
"protein_id": "XP_047305495.1",
"transcript_support_level": null,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2537,
"cds_start": 6482,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 6506,
"cdna_end": null,
"cdna_length": 8049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449539.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6479C>G",
"hgvs_p": "p.Ser2160Cys",
"transcript": "XM_047449540.1",
"protein_id": "XP_047305496.1",
"transcript_support_level": null,
"aa_start": 2160,
"aa_end": null,
"aa_length": 2536,
"cds_start": 6479,
"cds_end": null,
"cds_length": 7611,
"cdna_start": 6503,
"cdna_end": null,
"cdna_length": 8046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449540.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.6449C>G",
"hgvs_p": "p.Ser2150Cys",
"transcript": "XM_047449541.1",
"protein_id": "XP_047305497.1",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2526,
"cds_start": 6449,
"cds_end": null,
"cds_length": 7581,
"cdna_start": 6473,
"cdna_end": null,
"cdna_length": 8016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449541.1"
}
],
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"dbsnp": "rs61751592",
"frequency_reference_population": 0.006731726,
"hom_count_reference_population": 83,
"allele_count_reference_population": 10863,
"gnomad_exomes_af": 0.00685721,
"gnomad_genomes_af": 0.00552657,
"gnomad_exomes_ac": 10022,
"gnomad_genomes_ac": 841,
"gnomad_exomes_homalt": 79,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0037833452224731445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0911,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.103,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001813.3",
"gene_symbol": "CENPE",
"hgnc_id": 1856,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.6974C>G",
"hgvs_p": "p.Ser2325Cys"
}
],
"clinvar_disease": "CENPE-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|CENPE-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}