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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: 12-96289192-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=96289192&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 96289192,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002595.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "NM_002595.5",
"protein_id": "NP_002586.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": "ENST00000261211.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002595.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000261211.8",
"protein_id": "ENSP00000261211.3",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": "NM_002595.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261211.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Glu372Lys",
"transcript": "ENST00000859519.1",
"protein_id": "ENSP00000529578.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 530,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859519.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Glu372Lys",
"transcript": "ENST00000964179.1",
"protein_id": "ENSP00000634238.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 530,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964179.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Glu371Lys",
"transcript": "ENST00000859521.1",
"protein_id": "ENSP00000529580.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 529,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859521.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "NM_001170464.4",
"protein_id": "NP_001163935.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170464.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000543119.6",
"protein_id": "ENSP00000444459.2",
"transcript_support_level": 2,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543119.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000859520.1",
"protein_id": "ENSP00000529579.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859520.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000964181.1",
"protein_id": "ENSP00000634240.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964181.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000964182.1",
"protein_id": "ENSP00000634241.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964182.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000964183.1",
"protein_id": "ENSP00000634242.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964183.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000859522.1",
"protein_id": "ENSP00000529581.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 502,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859522.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000964178.1",
"protein_id": "ENSP00000634237.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 502,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964178.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Glu323Lys",
"transcript": "ENST00000964177.1",
"protein_id": "ENSP00000634236.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 481,
"cds_start": 967,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964177.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Glu323Lys",
"transcript": "ENST00000964184.1",
"protein_id": "ENSP00000634243.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 481,
"cds_start": 967,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964184.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Glu312Lys",
"transcript": "ENST00000542666.5",
"protein_id": "ENSP00000442926.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 470,
"cds_start": 934,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542666.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000859518.1",
"protein_id": "ENSP00000529577.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 468,
"cds_start": 928,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859518.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "ENST00000964180.1",
"protein_id": "ENSP00000634239.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 429,
"cds_start": 811,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964180.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "XM_017019405.2",
"protein_id": "XP_016874894.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019405.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "XM_017019406.2",
"protein_id": "XP_016874895.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019406.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "XM_017019407.3",
"protein_id": "XP_016874896.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 502,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019407.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "n.168G>A",
"hgvs_p": null,
"transcript": "ENST00000550971.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000550971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "n.501G>A",
"hgvs_p": null,
"transcript": "ENST00000551484.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"hgvs_c": "n.*66G>A",
"hgvs_p": null,
"transcript": "ENST00000553042.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553042.1"
}
],
"gene_symbol": "CDK17",
"gene_hgnc_id": 8750,
"dbsnp": null,
"frequency_reference_population": 6.8417046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8417e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6856972575187683,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.492,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002595.5",
"gene_symbol": "CDK17",
"hgnc_id": 8750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys"
}
],
"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
}