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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: 5-160253677-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160253677&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 160253677,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024565.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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.865G>A",
"hgvs_p": "p.Gly289Ser",
"transcript": "NM_001308173.3",
"protein_id": "NP_001295102.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 387,
"cds_start": 865,
"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": "G",
"aa_alt": "S",
"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.865G>A",
"hgvs_p": "p.Gly289Ser",
"transcript": "ENST00000257536.13",
"protein_id": "ENSP00000257536.7",
"transcript_support_level": 2,
"aa_start": 289,
"aa_end": null,
"aa_length": 387,
"cds_start": 865,
"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": "G",
"aa_alt": "S",
"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.1009G>A",
"hgvs_p": "p.Gly337Ser",
"transcript": "ENST00000393977.7",
"protein_id": "ENSP00000377547.3",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 435,
"cds_start": 1009,
"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": "G",
"aa_alt": "S",
"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.1009G>A",
"hgvs_p": "p.Gly337Ser",
"transcript": "NM_024565.8",
"protein_id": "NP_078841.3",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 435,
"cds_start": 1009,
"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": "G",
"aa_alt": "S",
"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.943G>A",
"hgvs_p": "p.Gly315Ser",
"transcript": "ENST00000870722.1",
"protein_id": "ENSP00000540781.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 413,
"cds_start": 943,
"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": "G",
"aa_alt": "S",
"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.907G>A",
"hgvs_p": "p.Gly303Ser",
"transcript": "ENST00000917493.1",
"protein_id": "ENSP00000587552.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 401,
"cds_start": 907,
"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": "G",
"aa_alt": "S",
"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.865G>A",
"hgvs_p": "p.Gly289Ser",
"transcript": "ENST00000644313.1",
"protein_id": "ENSP00000493837.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 387,
"cds_start": 865,
"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": "G",
"aa_alt": "S",
"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.865G>A",
"hgvs_p": "p.Gly289Ser",
"transcript": "ENST00000870724.1",
"protein_id": "ENSP00000540783.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 387,
"cds_start": 865,
"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": "G",
"aa_alt": "S",
"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.562G>A",
"hgvs_p": "p.Gly188Ser",
"transcript": "ENST00000870723.1",
"protein_id": "ENSP00000540782.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 286,
"cds_start": 562,
"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": "G",
"aa_alt": "S",
"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.562G>A",
"hgvs_p": "p.Gly188Ser",
"transcript": "ENST00000917494.1",
"protein_id": "ENSP00000587553.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 286,
"cds_start": 562,
"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": "G",
"aa_alt": "S",
"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.1000G>A",
"hgvs_p": "p.Gly334Ser",
"transcript": "XM_006714917.5",
"protein_id": "XP_006714980.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 432,
"cds_start": 1000,
"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": "G",
"aa_alt": "S",
"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.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047417702.1",
"protein_id": "XP_047273658.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 384,
"cds_start": 856,
"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": "G",
"aa_alt": "S",
"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.799G>A",
"hgvs_p": "p.Gly267Ser",
"transcript": "XM_011534646.4",
"protein_id": "XP_011532948.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 365,
"cds_start": 799,
"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": "G",
"aa_alt": "S",
"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.691G>A",
"hgvs_p": "p.Gly231Ser",
"transcript": "XM_011534647.4",
"protein_id": "XP_011532949.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 329,
"cds_start": 691,
"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": "G",
"aa_alt": "S",
"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.562G>A",
"hgvs_p": "p.Gly188Ser",
"transcript": "XM_017009847.2",
"protein_id": "XP_016865336.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 286,
"cds_start": 562,
"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": "G",
"aa_alt": "S",
"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.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "XM_047417704.1",
"protein_id": "XP_047273660.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 121,
"cds_start": 67,
"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.1418G>A",
"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.*617G>A",
"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.*1143G>A",
"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.*2149G>A",
"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.1338G>A",
"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.1322G>A",
"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.*617G>A",
"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.*1143G>A",
"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.*2149G>A",
"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": "rs375236790",
"frequency_reference_population": 0.000025515126,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000226811,
"gnomad_genomes_af": 0.0000526551,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014435172080993652,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.023,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024565.8",
"gene_symbol": "CCNJL",
"hgnc_id": 25876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Ser"
}
],
"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
}