← 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: 5-160253614-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160253614&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 160253614,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024565.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "NM_001308173.3",
"protein_id": "NP_001295102.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 387,
"cds_start": 928,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257536.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308173.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "ENST00000257536.13",
"protein_id": "ENSP00000257536.7",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 387,
"cds_start": 928,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308173.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257536.13"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Trp",
"transcript": "ENST00000393977.7",
"protein_id": "ENSP00000377547.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 435,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393977.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Trp",
"transcript": "NM_024565.8",
"protein_id": "NP_078841.3",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 435,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024565.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.1006C>T",
"hgvs_p": "p.Arg336Trp",
"transcript": "ENST00000870722.1",
"protein_id": "ENSP00000540781.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 413,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870722.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "ENST00000917493.1",
"protein_id": "ENSP00000587552.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 401,
"cds_start": 970,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917493.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "ENST00000644313.1",
"protein_id": "ENSP00000493837.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 387,
"cds_start": 928,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644313.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "ENST00000870724.1",
"protein_id": "ENSP00000540783.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 387,
"cds_start": 928,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870724.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000870723.1",
"protein_id": "ENSP00000540782.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 286,
"cds_start": 625,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870723.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000917494.1",
"protein_id": "ENSP00000587553.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 286,
"cds_start": 625,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917494.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "XM_006714917.5",
"protein_id": "XP_006714980.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 432,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714917.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307Trp",
"transcript": "XM_047417702.1",
"protein_id": "XP_047273658.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 384,
"cds_start": 919,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417702.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "XM_011534646.4",
"protein_id": "XP_011532948.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 365,
"cds_start": 862,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534646.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Trp",
"transcript": "XM_011534647.4",
"protein_id": "XP_011532949.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 329,
"cds_start": 754,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534647.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "XM_017009847.2",
"protein_id": "XP_016865336.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 286,
"cds_start": 625,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009847.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "XM_047417704.1",
"protein_id": "XP_047273660.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 121,
"cds_start": 130,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417704.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.1481C>T",
"hgvs_p": null,
"transcript": "ENST00000377503.6",
"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": "pseudogene",
"feature": "ENST00000377503.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.*680C>T",
"hgvs_p": null,
"transcript": "ENST00000643539.1",
"protein_id": "ENSP00000496436.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000643539.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.*1206C>T",
"hgvs_p": null,
"transcript": "ENST00000643836.1",
"protein_id": "ENSP00000496026.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000643836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.*2212C>T",
"hgvs_p": null,
"transcript": "ENST00000644926.1",
"protein_id": "ENSP00000496735.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000644926.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.1401C>T",
"hgvs_p": null,
"transcript": "NR_131769.2",
"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_131769.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.1385C>T",
"hgvs_p": null,
"transcript": "NR_177110.1",
"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_177110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.*680C>T",
"hgvs_p": null,
"transcript": "ENST00000643539.1",
"protein_id": "ENSP00000496436.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000643539.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.*1206C>T",
"hgvs_p": null,
"transcript": "ENST00000643836.1",
"protein_id": "ENSP00000496026.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000643836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"hgvs_c": "n.*2212C>T",
"hgvs_p": null,
"transcript": "ENST00000644926.1",
"protein_id": "ENSP00000496735.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000644926.1"
}
],
"gene_symbol": "CCNJL",
"gene_hgnc_id": 25876,
"dbsnp": "rs533035690",
"frequency_reference_population": 0.000010535932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000889624,
"gnomad_genomes_af": 0.0000262753,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26345765590667725,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.1529,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.299,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024565.8",
"gene_symbol": "CCNJL",
"hgnc_id": 25876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Trp"
}
],
"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
}