← 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: 2-73247918-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73247918&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73247918,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006429.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "NM_006429.4",
"protein_id": "NP_006420.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 543,
"cds_start": 775,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258091.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006429.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000258091.10",
"protein_id": "ENSP00000258091.5",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 543,
"cds_start": 775,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006429.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258091.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Thr257Ala",
"transcript": "ENST00000962766.1",
"protein_id": "ENSP00000632825.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 541,
"cds_start": 769,
"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": "ENST00000962766.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000915138.1",
"protein_id": "ENSP00000585197.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 540,
"cds_start": 775,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915138.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Thr256Ala",
"transcript": "ENST00000915140.1",
"protein_id": "ENSP00000585199.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 540,
"cds_start": 766,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915140.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Thr252Ala",
"transcript": "ENST00000915145.1",
"protein_id": "ENSP00000585204.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 536,
"cds_start": 754,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915145.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000962767.1",
"protein_id": "ENSP00000632826.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 531,
"cds_start": 775,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962767.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.739A>G",
"hgvs_p": "p.Thr247Ala",
"transcript": "ENST00000962768.1",
"protein_id": "ENSP00000632827.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 531,
"cds_start": 739,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962768.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000882897.1",
"protein_id": "ENSP00000552956.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 521,
"cds_start": 709,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882897.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Thr217Ala",
"transcript": "ENST00000882899.1",
"protein_id": "ENSP00000552958.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 501,
"cds_start": 649,
"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": "ENST00000882899.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000915142.1",
"protein_id": "ENSP00000585201.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 501,
"cds_start": 775,
"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": "ENST00000915142.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Thr215Ala",
"transcript": "NM_001166285.2",
"protein_id": "NP_001159757.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 499,
"cds_start": 643,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166285.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Thr215Ala",
"transcript": "ENST00000539919.5",
"protein_id": "ENSP00000437824.1",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 499,
"cds_start": 643,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539919.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000915139.1",
"protein_id": "ENSP00000585198.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 480,
"cds_start": 775,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915139.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Thr192Ala",
"transcript": "ENST00000962765.1",
"protein_id": "ENSP00000632824.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 476,
"cds_start": 574,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962765.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000882900.1",
"protein_id": "ENSP00000552959.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 474,
"cds_start": 775,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882900.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Thr184Ala",
"transcript": "ENST00000882898.1",
"protein_id": "ENSP00000552957.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 468,
"cds_start": 550,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882898.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Thr182Ala",
"transcript": "ENST00000915143.1",
"protein_id": "ENSP00000585202.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 466,
"cds_start": 544,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915143.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Thr172Ala",
"transcript": "NM_001166284.2",
"protein_id": "NP_001159756.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 456,
"cds_start": 514,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166284.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Thr172Ala",
"transcript": "ENST00000540468.5",
"protein_id": "ENSP00000442058.1",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 456,
"cds_start": 514,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540468.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Thr142Ala",
"transcript": "ENST00000915141.1",
"protein_id": "ENSP00000585200.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 426,
"cds_start": 424,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915141.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000915137.1",
"protein_id": "ENSP00000585196.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 411,
"cds_start": 775,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915137.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000882901.1",
"protein_id": "ENSP00000552960.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 403,
"cds_start": 775,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882901.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Thr184Ala",
"transcript": "ENST00000915147.1",
"protein_id": "ENSP00000585206.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 399,
"cds_start": 550,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915147.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"transcript": "NM_001009570.3",
"protein_id": "NP_001009570.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 339,
"cds_start": 163,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009570.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"transcript": "ENST00000398422.2",
"protein_id": "ENSP00000381456.2",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 339,
"cds_start": 163,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398422.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000915148.1",
"protein_id": "ENSP00000585207.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 334,
"cds_start": 775,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915148.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Thr55Ala",
"transcript": "ENST00000915146.1",
"protein_id": "ENSP00000585205.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 276,
"cds_start": 163,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.268-1073A>G",
"hgvs_p": null,
"transcript": "ENST00000915149.1",
"protein_id": "ENSP00000585208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.91-1967A>G",
"hgvs_p": null,
"transcript": "ENST00000915144.1",
"protein_id": "ENSP00000585203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915144.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "c.7-4722A>G",
"hgvs_p": null,
"transcript": "ENST00000915150.1",
"protein_id": "ENSP00000585209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "n.588A>G",
"hgvs_p": null,
"transcript": "ENST00000473786.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000473786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "n.533A>G",
"hgvs_p": null,
"transcript": "ENST00000488856.1",
"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": "retained_intron",
"feature": "ENST00000488856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "n.793A>G",
"hgvs_p": null,
"transcript": "NR_029402.2",
"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_029402.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "n.697A>G",
"hgvs_p": null,
"transcript": "NR_029403.2",
"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_029403.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"hgvs_c": "n.*374A>G",
"hgvs_p": null,
"transcript": "ENST00000409924.7",
"protein_id": "ENSP00000386978.3",
"transcript_support_level": 3,
"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": "ENST00000409924.7"
}
],
"gene_symbol": "CCT7",
"gene_hgnc_id": 1622,
"dbsnp": "rs2231427",
"frequency_reference_population": 0.000009913775,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000752599,
"gnomad_genomes_af": 0.0000328269,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07036399841308594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.226,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 3,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_006429.4",
"gene_symbol": "CCT7",
"hgnc_id": 1622,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}