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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: 9-87967465-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=87967465&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 87967465,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001039803.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1038G>A",
"hgvs_p": "p.Gly346Gly",
"transcript": "NM_001039803.3",
"protein_id": "NP_001034892.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 346,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325303.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039803.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1038G>A",
"hgvs_p": "p.Gly346Gly",
"transcript": "ENST00000325303.9",
"protein_id": "ENSP00000322343.8",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 346,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039803.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325303.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Gly325Gly",
"transcript": "ENST00000375883.7",
"protein_id": "ENSP00000365043.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 325,
"cds_start": 975,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375883.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.*119G>A",
"hgvs_p": null,
"transcript": "ENST00000605159.5",
"protein_id": "ENSP00000474485.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605159.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.*119G>A",
"hgvs_p": null,
"transcript": "ENST00000375871.8",
"protein_id": "ENSP00000365031.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375871.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "n.2516G>A",
"hgvs_p": null,
"transcript": "ENST00000459720.5",
"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": "retained_intron",
"feature": "ENST00000459720.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1077G>A",
"hgvs_p": "p.Gly359Gly",
"transcript": "ENST00000870588.1",
"protein_id": "ENSP00000540647.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 359,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870588.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Gly354Gly",
"transcript": "ENST00000926638.1",
"protein_id": "ENSP00000596697.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 354,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926638.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Gly351Gly",
"transcript": "ENST00000870587.1",
"protein_id": "ENSP00000540646.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 351,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870587.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gly338Gly",
"transcript": "NM_178432.4",
"protein_id": "NP_848519.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 338,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178432.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Gly338Gly",
"transcript": "ENST00000336654.9",
"protein_id": "ENSP00000338975.5",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 338,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336654.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Gly337Gly",
"transcript": "ENST00000870592.1",
"protein_id": "ENSP00000540651.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 337,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870592.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Gly332Gly",
"transcript": "ENST00000870590.1",
"protein_id": "ENSP00000540649.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 332,
"cds_start": 996,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870590.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Gly330Gly",
"transcript": "ENST00000952589.1",
"protein_id": "ENSP00000622648.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 330,
"cds_start": 990,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952589.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Gly329Gly",
"transcript": "ENST00000952590.1",
"protein_id": "ENSP00000622649.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 329,
"cds_start": 987,
"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": "ENST00000952590.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_012119.5",
"protein_id": "NP_036251.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 325,
"cds_start": 975,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012119.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"transcript": "ENST00000870591.1",
"protein_id": "ENSP00000540650.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 313,
"cds_start": 939,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870591.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Gly309Gly",
"transcript": "ENST00000952591.1",
"protein_id": "ENSP00000622650.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 309,
"cds_start": 927,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952591.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.888G>A",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000926639.1",
"protein_id": "ENSP00000596698.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 296,
"cds_start": 888,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926639.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "ENST00000870589.1",
"protein_id": "ENSP00000540648.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 280,
"cds_start": 840,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870589.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Gly264Gly",
"transcript": "ENST00000926640.1",
"protein_id": "ENSP00000596699.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 264,
"cds_start": 792,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926640.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Gly364Gly",
"transcript": "XM_047423118.1",
"protein_id": "XP_047279074.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 364,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423118.1"
},
{
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"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": "ENST00000798246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902200",
"gene_hgnc_id": null,
"hgvs_c": "n.92-9C>T",
"hgvs_p": null,
"transcript": "XR_007061646.1",
"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": "XR_007061646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902200",
"gene_hgnc_id": null,
"hgvs_c": "n.89+243C>T",
"hgvs_p": null,
"transcript": "XR_007061647.1",
"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": "XR_007061647.1"
}
],
"gene_symbol": "CDK20",
"gene_hgnc_id": 21420,
"dbsnp": "rs144686198",
"frequency_reference_population": 0.0000881757,
"hom_count_reference_population": 1,
"allele_count_reference_population": 137,
"gnomad_exomes_af": 0.000060652,
"gnomad_genomes_af": 0.000341481,
"gnomad_exomes_ac": 85,
"gnomad_genomes_ac": 52,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04699999839067459,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.494,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001039803.3",
"gene_symbol": "CDK20",
"hgnc_id": 21420,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1038G>A",
"hgvs_p": "p.Gly346Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000798236.1",
"gene_symbol": "ENSG00000303948",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.508-9C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007061646.1",
"gene_symbol": "LOC124902200",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.92-9C>T",
"hgvs_p": null
}
],
"clinvar_disease": "CDK20-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|CDK20-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}