← 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: 16-89695679-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89695679&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89695679,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_052988.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_052988.5",
"protein_id": "NP_443714.3",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 360,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": "ENST00000353379.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052988.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000353379.12",
"protein_id": "ENSP00000338673.7",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 360,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": "NM_052988.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353379.12"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.773-50G>C",
"hgvs_p": null,
"transcript": "ENST00000505473.5",
"protein_id": "ENSP00000424415.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505473.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1166G>C",
"hgvs_p": "p.Arg389Pro",
"transcript": "ENST00000851882.1",
"protein_id": "ENSP00000521941.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 392,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851882.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000941355.1",
"protein_id": "ENSP00000611414.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 360,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941355.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000851880.1",
"protein_id": "ENSP00000521939.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 354,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851880.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "ENST00000851881.1",
"protein_id": "ENSP00000521940.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 354,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851881.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1034G>C",
"hgvs_p": "p.Arg345Pro",
"transcript": "ENST00000851883.1",
"protein_id": "ENSP00000521942.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 348,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851883.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.941G>C",
"hgvs_p": "p.Arg314Pro",
"transcript": "ENST00000851884.1",
"protein_id": "ENSP00000521943.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 317,
"cds_start": 941,
"cds_end": null,
"cds_length": 954,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851884.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Arg310Pro",
"transcript": "ENST00000331006.12",
"protein_id": "ENSP00000329957.8",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 313,
"cds_start": 929,
"cds_end": null,
"cds_length": 942,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331006.12"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "NM_001160367.2",
"protein_id": "NP_001153839.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 289,
"cds_start": 857,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160367.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001098533.3",
"protein_id": "NP_001092003.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 283,
"cds_start": 839,
"cds_end": null,
"cds_length": 852,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098533.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1166G>C",
"hgvs_p": "p.Arg389Pro",
"transcript": "XM_011523405.4",
"protein_id": "XP_011521707.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 392,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523405.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1148G>C",
"hgvs_p": "p.Arg383Pro",
"transcript": "XM_011523406.4",
"protein_id": "XP_011521708.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 386,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523406.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1055G>C",
"hgvs_p": "p.Arg352Pro",
"transcript": "XM_017023806.2",
"protein_id": "XP_016879295.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 355,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023806.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Arg351Pro",
"transcript": "XM_006721308.4",
"protein_id": "XP_006721371.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 354,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721308.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.959G>C",
"hgvs_p": "p.Arg320Pro",
"transcript": "XM_047434821.1",
"protein_id": "XP_047290777.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 323,
"cds_start": 959,
"cds_end": null,
"cds_length": 972,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434821.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "XM_011523410.3",
"protein_id": "XP_011521712.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 321,
"cds_start": 953,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523410.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "XM_011523413.3",
"protein_id": "XP_011521715.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 321,
"cds_start": 953,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523413.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "XM_011523415.3",
"protein_id": "XP_011521717.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 321,
"cds_start": 953,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523415.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "XM_047434822.1",
"protein_id": "XP_047290778.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 321,
"cds_start": 953,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434822.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "XM_047434823.1",
"protein_id": "XP_047290779.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 321,
"cds_start": 953,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434823.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.941G>C",
"hgvs_p": "p.Arg314Pro",
"transcript": "XM_047434824.1",
"protein_id": "XP_047290780.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 317,
"cds_start": 941,
"cds_end": null,
"cds_length": 954,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434824.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.773-50G>C",
"hgvs_p": null,
"transcript": "NM_052987.4",
"protein_id": "NP_443713.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052987.4"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1082-50G>C",
"hgvs_p": null,
"transcript": "XM_011523407.4",
"protein_id": "XP_011521709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523407.4"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.1064-50G>C",
"hgvs_p": null,
"transcript": "XM_011523408.4",
"protein_id": "XP_011521710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523408.4"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.986-50G>C",
"hgvs_p": null,
"transcript": "XM_006721310.4",
"protein_id": "XP_006721373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721310.4"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.971-50G>C",
"hgvs_p": null,
"transcript": "XM_047434820.1",
"protein_id": "XP_047290776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434820.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.968-50G>C",
"hgvs_p": null,
"transcript": "XM_017023807.3",
"protein_id": "XP_016879296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023807.3"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.875-50G>C",
"hgvs_p": null,
"transcript": "XM_047434825.1",
"protein_id": "XP_047290781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434825.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "c.773-50G>C",
"hgvs_p": null,
"transcript": "XM_017023810.2",
"protein_id": "XP_016879299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023810.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.1857G>C",
"hgvs_p": null,
"transcript": "ENST00000472018.5",
"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": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472018.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.*868G>C",
"hgvs_p": null,
"transcript": "ENST00000510811.6",
"protein_id": "ENSP00000455976.1",
"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": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510811.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.*196G>C",
"hgvs_p": null,
"transcript": "ENST00000565470.1",
"protein_id": "ENSP00000456788.1",
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.1019G>C",
"hgvs_p": null,
"transcript": "NR_027702.2",
"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": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027702.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.*868G>C",
"hgvs_p": null,
"transcript": "ENST00000510811.6",
"protein_id": "ENSP00000455976.1",
"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": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510811.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.*196G>C",
"hgvs_p": null,
"transcript": "ENST00000565470.1",
"protein_id": "ENSP00000456788.1",
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565470.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.1078-50G>C",
"hgvs_p": null,
"transcript": "ENST00000505733.5",
"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": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505733.5"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"hgvs_c": "n.935-50G>C",
"hgvs_p": null,
"transcript": "NR_027703.2",
"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": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027703.2"
}
],
"gene_symbol": "CDK10",
"gene_hgnc_id": 1770,
"dbsnp": "rs772157816",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3670620322227478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.448,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052988.5",
"gene_symbol": "CDK10",
"hgnc_id": 1770,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}