← 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: 11-116857914-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116857914&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116857914,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366686.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3551C>T",
"hgvs_p": "p.Pro1184Leu",
"transcript": "NM_001366686.3",
"protein_id": "NP_001353615.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445177.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366686.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3551C>T",
"hgvs_p": "p.Pro1184Leu",
"transcript": "ENST00000445177.6",
"protein_id": "ENSP00000391295.2",
"transcript_support_level": 5,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366686.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445177.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Pro1076Leu",
"transcript": "ENST00000446921.6",
"protein_id": "ENSP00000390442.2",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446921.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.*2751C>T",
"hgvs_p": null,
"transcript": "ENST00000415541.5",
"protein_id": "ENSP00000392761.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000415541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.1237C>T",
"hgvs_p": null,
"transcript": "ENST00000480468.1",
"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": "ENST00000480468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.1420C>T",
"hgvs_p": null,
"transcript": "ENST00000488337.5",
"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": "pseudogene",
"feature": "ENST00000488337.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.*2751C>T",
"hgvs_p": null,
"transcript": "ENST00000415541.5",
"protein_id": "ENSP00000392761.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000415541.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3653C>T",
"hgvs_p": "p.Pro1218Leu",
"transcript": "ENST00000923916.1",
"protein_id": "ENSP00000593975.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923916.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3551C>T",
"hgvs_p": "p.Pro1184Leu",
"transcript": "ENST00000954062.1",
"protein_id": "ENSP00000624121.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954062.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3536C>T",
"hgvs_p": "p.Pro1179Leu",
"transcript": "ENST00000923914.1",
"protein_id": "ENSP00000593973.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3536,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923914.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3551C>T",
"hgvs_p": "p.Pro1184Leu",
"transcript": "ENST00000954064.1",
"protein_id": "ENSP00000624123.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954064.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "NM_025164.6",
"protein_id": "NP_079440.3",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025164.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "ENST00000375300.6",
"protein_id": "ENSP00000364449.1",
"transcript_support_level": 2,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375300.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "ENST00000923910.1",
"protein_id": "ENSP00000593969.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923910.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "ENST00000954063.1",
"protein_id": "ENSP00000624122.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954063.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "ENST00000954067.1",
"protein_id": "ENSP00000624126.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954067.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Pro1135Leu",
"transcript": "ENST00000923915.1",
"protein_id": "ENSP00000593974.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923915.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3371C>T",
"hgvs_p": "p.Pro1124Leu",
"transcript": "ENST00000878032.1",
"protein_id": "ENSP00000548091.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878032.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3356C>T",
"hgvs_p": "p.Pro1119Leu",
"transcript": "ENST00000923912.1",
"protein_id": "ENSP00000593971.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3356,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923912.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3263C>T",
"hgvs_p": "p.Pro1088Leu",
"transcript": "ENST00000923913.1",
"protein_id": "ENSP00000593972.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923913.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Pro1076Leu",
"transcript": "NM_001281749.3",
"protein_id": "NP_001268678.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281749.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Pro1076Leu",
"transcript": "ENST00000878033.1",
"protein_id": "ENSP00000548092.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878033.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3083C>T",
"hgvs_p": "p.Pro1028Leu",
"transcript": "ENST00000923911.1",
"protein_id": "ENSP00000593970.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3083,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923911.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3047C>T",
"hgvs_p": "p.Pro1016Leu",
"transcript": "ENST00000954065.1",
"protein_id": "ENSP00000624124.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954065.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3083C>T",
"hgvs_p": "p.Pro1028Leu",
"transcript": "ENST00000923918.1",
"protein_id": "ENSP00000593977.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3083,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923918.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.2750C>T",
"hgvs_p": "p.Pro917Leu",
"transcript": "NM_001281748.3",
"protein_id": "NP_001268677.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281748.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3551C>T",
"hgvs_p": "p.Pro1184Leu",
"transcript": "XM_047426671.1",
"protein_id": "XP_047282627.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426671.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "XM_005271482.5",
"protein_id": "XP_005271539.2",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271482.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3371C>T",
"hgvs_p": "p.Pro1124Leu",
"transcript": "XM_011542722.2",
"protein_id": "XP_011541024.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542722.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3263C>T",
"hgvs_p": "p.Pro1088Leu",
"transcript": "XM_047426672.1",
"protein_id": "XP_047282628.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426672.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Pro1076Leu",
"transcript": "XM_005271484.4",
"protein_id": "XP_005271541.2",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271484.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3083C>T",
"hgvs_p": "p.Pro1028Leu",
"transcript": "XM_017017424.2",
"protein_id": "XP_016872913.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3083,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017424.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3074C>T",
"hgvs_p": "p.Pro1025Leu",
"transcript": "XM_011542723.3",
"protein_id": "XP_011541025.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542723.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3074C>T",
"hgvs_p": "p.Pro1025Leu",
"transcript": "XM_011542724.3",
"protein_id": "XP_011541026.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542724.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3074C>T",
"hgvs_p": "p.Pro1025Leu",
"transcript": "XM_011542725.3",
"protein_id": "XP_011541027.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542725.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3074C>T",
"hgvs_p": "p.Pro1025Leu",
"transcript": "XM_017017425.2",
"protein_id": "XP_016872914.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017425.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.3074C>T",
"hgvs_p": "p.Pro1025Leu",
"transcript": "XM_017017426.2",
"protein_id": "XP_016872915.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017426.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "XM_005271485.4",
"protein_id": "XP_005271542.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 770,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271485.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.1610C>T",
"hgvs_p": "p.Pro537Leu",
"transcript": "XM_047426673.1",
"protein_id": "XP_047282629.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 722,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.2425+3360C>T",
"hgvs_p": null,
"transcript": "ENST00000923917.1",
"protein_id": "ENSP00000593976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": null,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923917.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.866-8631C>T",
"hgvs_p": null,
"transcript": "ENST00000954066.1",
"protein_id": "ENSP00000624125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": null,
"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": "ENST00000954066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.2669C>T",
"hgvs_p": null,
"transcript": "ENST00000465421.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465421.5"
}
],
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"dbsnp": "rs12225230",
"frequency_reference_population": 0.0000049569057,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478834,
"gnomad_genomes_af": 0.00000657782,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3659059405326843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.1119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.16,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001366686.3",
"gene_symbol": "SIK3",
"hgnc_id": 29165,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.3551C>T",
"hgvs_p": "p.Pro1184Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}