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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: 21-29063422-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29063422&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29063422,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006585.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "NM_006585.4",
"protein_id": "NP_006576.2",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 548,
"cds_start": 871,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286788.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006585.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000286788.9",
"protein_id": "ENSP00000286788.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 548,
"cds_start": 871,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "n.945G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470450.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "ENST00000936253.1",
"protein_id": "ENSP00000606312.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 546,
"cds_start": 865,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936253.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000852627.1",
"protein_id": "ENSP00000522686.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 545,
"cds_start": 871,
"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": "ENST00000852627.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000852630.1",
"protein_id": "ENSP00000522689.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 545,
"cds_start": 871,
"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": "ENST00000852630.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000960006.1",
"protein_id": "ENSP00000630065.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 545,
"cds_start": 871,
"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": "ENST00000960006.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000936255.1",
"protein_id": "ENSP00000606314.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 541,
"cds_start": 871,
"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": "ENST00000936255.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000936254.1",
"protein_id": "ENSP00000606313.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 540,
"cds_start": 871,
"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": "ENST00000936254.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000936256.1",
"protein_id": "ENSP00000606315.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 540,
"cds_start": 871,
"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": "ENST00000936256.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000936257.1",
"protein_id": "ENSP00000606316.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 538,
"cds_start": 871,
"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": "ENST00000936257.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000852628.1",
"protein_id": "ENSP00000522687.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 534,
"cds_start": 871,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852628.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Ile",
"transcript": "NM_001282907.2",
"protein_id": "NP_001269836.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 529,
"cds_start": 814,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282907.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Ile",
"transcript": "ENST00000626972.2",
"protein_id": "ENSP00000486921.1",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 529,
"cds_start": 814,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626972.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000960004.1",
"protein_id": "ENSP00000630063.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 527,
"cds_start": 871,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960004.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000852629.1",
"protein_id": "ENSP00000522688.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 524,
"cds_start": 871,
"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": "ENST00000852629.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "NM_001282908.2",
"protein_id": "NP_001269837.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 497,
"cds_start": 718,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282908.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Val234Ile",
"transcript": "ENST00000852626.1",
"protein_id": "ENSP00000522685.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 491,
"cds_start": 700,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852626.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000960005.1",
"protein_id": "ENSP00000630064.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 480,
"cds_start": 871,
"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": "ENST00000960005.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Val218Ile",
"transcript": "NM_001282909.2",
"protein_id": "NP_001269838.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 475,
"cds_start": 652,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282909.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Ile",
"transcript": "ENST00000431234.1",
"protein_id": "ENSP00000416832.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 321,
"cds_start": 706,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431234.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Ile",
"transcript": "XM_047440668.1",
"protein_id": "XP_047296624.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 529,
"cds_start": 814,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440668.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
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"gene_symbol": "CCT8",
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"transcript": "ENST00000475205.1",
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"transcript_support_level": 2,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475205.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 14,
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"gene_symbol": "CCT8",
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"hgvs_c": "n.*524G>A",
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"transcript": "ENST00000540844.6",
"protein_id": "ENSP00000442730.2",
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540844.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CCT8",
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"hgvs_c": "n.*524G>A",
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"transcript": "ENST00000540844.6",
"protein_id": "ENSP00000442730.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540844.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ENSG00000286018",
"gene_hgnc_id": null,
"hgvs_c": "n.-24C>T",
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"transcript": "ENST00000651960.1",
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"transcript_support_level": null,
"aa_start": null,
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"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": "ENST00000651960.1"
}
],
"gene_symbol": "CCT8",
"gene_hgnc_id": 1623,
"dbsnp": "rs565670373",
"frequency_reference_population": 0.000043371314,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000431009,
"gnomad_genomes_af": 0.0000459667,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08171185851097107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.0741,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.76,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006585.4",
"gene_symbol": "CCT8",
"hgnc_id": 1623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651960.1",
"gene_symbol": "ENSG00000286018",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-24C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}