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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: 1-156309284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156309284&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156309284,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005998.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Gln",
"transcript": "NM_005998.5",
"protein_id": "NP_005989.3",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295688.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005998.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Gln",
"transcript": "ENST00000295688.8",
"protein_id": "ENSP00000295688.3",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005998.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295688.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Arg525Gln",
"transcript": "ENST00000954294.1",
"protein_id": "ENSP00000624353.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 552,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954294.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Arg523Gln",
"transcript": "ENST00000898516.1",
"protein_id": "ENSP00000568575.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 550,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898516.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Gln",
"transcript": "ENST00000940011.1",
"protein_id": "ENSP00000610070.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940011.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517Gln",
"transcript": "ENST00000940013.1",
"protein_id": "ENSP00000610072.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940013.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516Gln",
"transcript": "ENST00000954292.1",
"protein_id": "ENSP00000624351.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 543,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954292.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1541G>A",
"hgvs_p": "p.Arg514Gln",
"transcript": "ENST00000940017.1",
"protein_id": "ENSP00000610076.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 541,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940017.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000940012.1",
"protein_id": "ENSP00000610071.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 538,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940012.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501Gln",
"transcript": "ENST00000954295.1",
"protein_id": "ENSP00000624354.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 528,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954295.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497Gln",
"transcript": "ENST00000940020.1",
"protein_id": "ENSP00000610079.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 524,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940020.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496Gln",
"transcript": "ENST00000940022.1",
"protein_id": "ENSP00000610081.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 523,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940022.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln",
"transcript": "NM_001008800.3",
"protein_id": "NP_001008800.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 507,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008800.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln",
"transcript": "ENST00000368259.6",
"protein_id": "ENSP00000357242.2",
"transcript_support_level": 2,
"aa_start": 480,
"aa_end": null,
"aa_length": 507,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368259.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479Gln",
"transcript": "ENST00000954293.1",
"protein_id": "ENSP00000624352.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 506,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954293.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Gln",
"transcript": "ENST00000940018.1",
"protein_id": "ENSP00000610077.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 501,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940018.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Arg473Gln",
"transcript": "ENST00000472765.6",
"protein_id": "ENSP00000431543.1",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 500,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472765.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468Gln",
"transcript": "ENST00000940016.1",
"protein_id": "ENSP00000610075.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 495,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940016.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Gln",
"transcript": "ENST00000940014.1",
"protein_id": "ENSP00000610073.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 463,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940014.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427Gln",
"transcript": "ENST00000940021.1",
"protein_id": "ENSP00000610080.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 454,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940021.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "ENST00000954296.1",
"protein_id": "ENSP00000624355.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 425,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954296.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000940015.1",
"protein_id": "ENSP00000610074.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 422,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940015.1"
},
{
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{
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{
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],
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{
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{
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{
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],
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},
{
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],
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{
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],
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{
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "CCT3",
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"dbsnp": "rs745774938",
"frequency_reference_population": 0.0000027368656,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273687,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9283639192581177,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9023,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.339,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005998.5",
"gene_symbol": "CCT3",
"hgnc_id": 1616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Gln"
}
],
"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
}