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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: 21-29061274-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29061274&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCT8",
"hgnc_id": 1623,
"hgvs_c": "c.1428A>T",
"hgvs_p": "p.Lys476Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_006585.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3134,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "21",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4451126158237457,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 548,
"aa_ref": "K",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1428,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_006585.4",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1428A>T",
"hgvs_p": "p.Lys476Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000286788.9",
"protein_coding": true,
"protein_id": "NP_006576.2",
"strand": false,
"transcript": "NM_006585.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 548,
"aa_ref": "K",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1428,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000286788.9",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1428A>T",
"hgvs_p": "p.Lys476Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006585.4",
"protein_coding": true,
"protein_id": "ENSP00000286788.4",
"strand": false,
"transcript": "ENST00000286788.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000470450.5",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "n.1502A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470450.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 546,
"aa_ref": "K",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1422,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936253.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1422A>T",
"hgvs_p": "p.Lys474Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606312.1",
"strand": false,
"transcript": "ENST00000936253.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 545,
"aa_ref": "K",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1419,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852627.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1419A>T",
"hgvs_p": "p.Lys473Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522686.1",
"strand": false,
"transcript": "ENST00000852627.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 545,
"aa_ref": "K",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1419,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852630.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1419A>T",
"hgvs_p": "p.Lys473Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522689.1",
"strand": false,
"transcript": "ENST00000852630.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 545,
"aa_ref": "K",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1428,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000960006.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1428A>T",
"hgvs_p": "p.Lys476Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630065.1",
"strand": false,
"transcript": "ENST00000960006.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 541,
"aa_ref": "K",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1407,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936255.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1407A>T",
"hgvs_p": "p.Lys469Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606314.1",
"strand": false,
"transcript": "ENST00000936255.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 540,
"aa_ref": "K",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936254.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1404A>T",
"hgvs_p": "p.Lys468Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606313.1",
"strand": false,
"transcript": "ENST00000936254.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 540,
"aa_ref": "K",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936256.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1404A>T",
"hgvs_p": "p.Lys468Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606315.1",
"strand": false,
"transcript": "ENST00000936256.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "K",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1398,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936257.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1398A>T",
"hgvs_p": "p.Lys466Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606316.1",
"strand": false,
"transcript": "ENST00000936257.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 534,
"aa_ref": "K",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1386,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852628.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1386A>T",
"hgvs_p": "p.Lys462Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522687.1",
"strand": false,
"transcript": "ENST00000852628.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 529,
"aa_ref": "K",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1371,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001282907.2",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1371A>T",
"hgvs_p": "p.Lys457Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269836.1",
"strand": false,
"transcript": "NM_001282907.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 529,
"aa_ref": "K",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1371,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000626972.2",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1371A>T",
"hgvs_p": "p.Lys457Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486921.1",
"strand": false,
"transcript": "ENST00000626972.2",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 524,
"aa_ref": "K",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1356,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852629.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1356A>T",
"hgvs_p": "p.Lys452Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522688.1",
"strand": false,
"transcript": "ENST00000852629.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 497,
"aa_ref": "K",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001282908.2",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1275A>T",
"hgvs_p": "p.Lys425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269837.1",
"strand": false,
"transcript": "NM_001282908.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 491,
"aa_ref": "K",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1257,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000852626.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1257A>T",
"hgvs_p": "p.Lys419Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522685.1",
"strand": false,
"transcript": "ENST00000852626.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 480,
"aa_ref": "K",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000960005.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1224A>T",
"hgvs_p": "p.Lys408Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630064.1",
"strand": false,
"transcript": "ENST00000960005.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 475,
"aa_ref": "K",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1209,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001282909.2",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1209A>T",
"hgvs_p": "p.Lys403Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269838.1",
"strand": false,
"transcript": "NM_001282909.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 106,
"aa_ref": "K",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": 103,
"cds_end": null,
"cds_length": 321,
"cds_start": 102,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000432178.5",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.102A>T",
"hgvs_p": "p.Lys34Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407748.1",
"strand": false,
"transcript": "ENST00000432178.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 529,
"aa_ref": "K",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3433,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1371,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047440668.1",
"gene_hgnc_id": 1623,
"gene_symbol": "CCT8",
"hgvs_c": "c.1371A>T",
"hgvs_p": "p.Lys457Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}