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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: 5-69175066-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69175066&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69175066,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_031966.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "NM_031966.4",
"protein_id": "NP_114172.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 433,
"cds_start": 895,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256442.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031966.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000256442.10",
"protein_id": "ENSP00000256442.5",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 433,
"cds_start": 895,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031966.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256442.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000506572.5",
"protein_id": "ENSP00000423387.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 400,
"cds_start": 895,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506572.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000505500.5",
"protein_id": "ENSP00000424588.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 395,
"cds_start": 895,
"cds_end": null,
"cds_length": 1190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505500.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.913C>A",
"hgvs_p": "p.Arg305Arg",
"transcript": "ENST00000870642.1",
"protein_id": "ENSP00000540701.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 439,
"cds_start": 913,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870642.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Arg",
"transcript": "ENST00000924410.1",
"protein_id": "ENSP00000594469.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 438,
"cds_start": 910,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924410.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000924409.1",
"protein_id": "ENSP00000594468.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 435,
"cds_start": 895,
"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": "ENST00000924409.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000924413.1",
"protein_id": "ENSP00000594472.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 433,
"cds_start": 895,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924413.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.889C>A",
"hgvs_p": "p.Arg297Arg",
"transcript": "ENST00000924408.1",
"protein_id": "ENSP00000594467.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 431,
"cds_start": 889,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924408.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Arg",
"transcript": "ENST00000924422.1",
"protein_id": "ENSP00000594481.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 409,
"cds_start": 823,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924422.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Arg263Arg",
"transcript": "ENST00000924407.1",
"protein_id": "ENSP00000594466.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 397,
"cds_start": 787,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924407.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "NM_001354844.2",
"protein_id": "NP_001341773.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 396,
"cds_start": 895,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354844.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000924414.1",
"protein_id": "ENSP00000594473.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 386,
"cds_start": 895,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924414.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.754C>A",
"hgvs_p": "p.Arg252Arg",
"transcript": "ENST00000924420.1",
"protein_id": "ENSP00000594479.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 386,
"cds_start": 754,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924420.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.736C>A",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_001354845.2",
"protein_id": "NP_001341774.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 380,
"cds_start": 736,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354845.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.Arg242Arg",
"transcript": "ENST00000924416.1",
"protein_id": "ENSP00000594475.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 376,
"cds_start": 724,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924416.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.634C>A",
"hgvs_p": "p.Arg212Arg",
"transcript": "ENST00000924418.1",
"protein_id": "ENSP00000594477.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 346,
"cds_start": 634,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924418.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Arg185Arg",
"transcript": "ENST00000924417.1",
"protein_id": "ENSP00000594476.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 319,
"cds_start": 553,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924417.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000960692.1",
"protein_id": "ENSP00000630751.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 283,
"cds_start": 445,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960692.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Arg115Arg",
"transcript": "ENST00000507798.1",
"protein_id": "ENSP00000426230.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 185,
"cds_start": 343,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507798.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.799+96C>A",
"hgvs_p": null,
"transcript": "ENST00000924423.1",
"protein_id": "ENSP00000594482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"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": "ENST00000924423.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.705+657C>A",
"hgvs_p": null,
"transcript": "ENST00000924411.1",
"protein_id": "ENSP00000594470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924411.1"
},
{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 11,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.49000000953674316,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.534,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.49,
"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_031966.4",
"gene_symbol": "CCNB1",
"hgnc_id": 1579,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}