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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: 21-29062213-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29062213&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29062213,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006585.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala",
"transcript": "NM_006585.4",
"protein_id": "NP_006576.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 548,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "ENST00000286788.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006585.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala",
"transcript": "ENST00000286788.9",
"protein_id": "ENSP00000286788.4",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 548,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "NM_006585.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286788.9"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "n.1201T>C",
"hgvs_p": null,
"transcript": "ENST00000470450.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470450.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1121T>C",
"hgvs_p": "p.Val374Ala",
"transcript": "ENST00000936253.1",
"protein_id": "ENSP00000606312.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 546,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936253.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1118T>C",
"hgvs_p": "p.Val373Ala",
"transcript": "ENST00000852627.1",
"protein_id": "ENSP00000522686.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 545,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852627.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1118T>C",
"hgvs_p": "p.Val373Ala",
"transcript": "ENST00000852630.1",
"protein_id": "ENSP00000522689.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 545,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852630.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala",
"transcript": "ENST00000960006.1",
"protein_id": "ENSP00000630065.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 545,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960006.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala",
"transcript": "ENST00000936255.1",
"protein_id": "ENSP00000606314.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 541,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936255.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Val368Ala",
"transcript": "ENST00000936254.1",
"protein_id": "ENSP00000606313.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 540,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936254.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Val368Ala",
"transcript": "ENST00000936256.1",
"protein_id": "ENSP00000606315.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 540,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936256.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1118T>C",
"hgvs_p": "p.Val373Ala",
"transcript": "ENST00000852628.1",
"protein_id": "ENSP00000522687.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 534,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852628.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Val357Ala",
"transcript": "NM_001282907.2",
"protein_id": "NP_001269836.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 529,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282907.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Val357Ala",
"transcript": "ENST00000626972.2",
"protein_id": "ENSP00000486921.1",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 529,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626972.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala",
"transcript": "ENST00000960004.1",
"protein_id": "ENSP00000630063.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 527,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960004.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala",
"transcript": "ENST00000852629.1",
"protein_id": "ENSP00000522688.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 524,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852629.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.974T>C",
"hgvs_p": "p.Val325Ala",
"transcript": "NM_001282908.2",
"protein_id": "NP_001269837.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 497,
"cds_start": 974,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282908.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.956T>C",
"hgvs_p": "p.Val319Ala",
"transcript": "ENST00000852626.1",
"protein_id": "ENSP00000522685.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 491,
"cds_start": 956,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852626.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Val303Ala",
"transcript": "NM_001282909.2",
"protein_id": "NP_001269838.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 475,
"cds_start": 908,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282909.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Val321Ala",
"transcript": "ENST00000431234.1",
"protein_id": "ENSP00000416832.1",
"transcript_support_level": 5,
"aa_start": 321,
"aa_end": null,
"aa_length": 321,
"cds_start": 962,
"cds_end": null,
"cds_length": 966,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431234.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Val357Ala",
"transcript": "XM_047440668.1",
"protein_id": "XP_047296624.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 529,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440668.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Val366Ala",
"transcript": "ENST00000936257.1",
"protein_id": "ENSP00000606316.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 538,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936257.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.1008+277T>C",
"hgvs_p": null,
"transcript": "ENST00000960005.1",
"protein_id": "ENSP00000630064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": null,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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],
"gene_symbol": "CCT8",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8312045335769653,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.465,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.62,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006585.4",
"gene_symbol": "CCT8",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Val376Ala"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}