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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: 3-171066626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=171066626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 171066626,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015028.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3809G>A",
"hgvs_p": "p.Arg1270Gln",
"transcript": "NM_015028.4",
"protein_id": "NP_055843.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3809,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436636.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015028.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3809G>A",
"hgvs_p": "p.Arg1270Gln",
"transcript": "ENST00000436636.7",
"protein_id": "ENSP00000399511.2",
"transcript_support_level": 1,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3809,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015028.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436636.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3785G>A",
"hgvs_p": "p.Arg1262Gln",
"transcript": "ENST00000284483.12",
"protein_id": "ENSP00000284483.8",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3785,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284483.12"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3722G>A",
"hgvs_p": "p.Arg1241Gln",
"transcript": "ENST00000357327.9",
"protein_id": "ENSP00000349880.5",
"transcript_support_level": 1,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3722,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357327.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3698G>A",
"hgvs_p": "p.Arg1233Gln",
"transcript": "ENST00000470834.5",
"protein_id": "ENSP00000419990.1",
"transcript_support_level": 1,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3698,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470834.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Gln",
"transcript": "ENST00000488470.5",
"protein_id": "ENSP00000418378.1",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3644,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488470.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3620G>A",
"hgvs_p": "p.Arg1207Gln",
"transcript": "ENST00000460047.5",
"protein_id": "ENSP00000418916.1",
"transcript_support_level": 1,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3620,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460047.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3557G>A",
"hgvs_p": "p.Arg1186Gln",
"transcript": "ENST00000341852.10",
"protein_id": "ENSP00000345352.6",
"transcript_support_level": 1,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3557,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341852.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3533G>A",
"hgvs_p": "p.Arg1178Gln",
"transcript": "ENST00000475336.5",
"protein_id": "ENSP00000418156.1",
"transcript_support_level": 1,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475336.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "n.1842G>A",
"hgvs_p": null,
"transcript": "ENST00000496492.5",
"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": "ENST00000496492.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3857G>A",
"hgvs_p": "p.Arg1286Gln",
"transcript": "ENST00000948115.1",
"protein_id": "ENSP00000618174.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3857,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948115.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3785G>A",
"hgvs_p": "p.Arg1262Gln",
"transcript": "NM_001161560.3",
"protein_id": "NP_001155032.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3785,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161560.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3722G>A",
"hgvs_p": "p.Arg1241Gln",
"transcript": "NM_001161561.3",
"protein_id": "NP_001155033.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3722,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161561.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3698G>A",
"hgvs_p": "p.Arg1233Gln",
"transcript": "NM_001161562.3",
"protein_id": "NP_001155034.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3698,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161562.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Gln",
"transcript": "NM_001161563.3",
"protein_id": "NP_001155035.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3644,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161563.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3620G>A",
"hgvs_p": "p.Arg1207Gln",
"transcript": "NM_001161564.3",
"protein_id": "NP_001155036.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3620,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161564.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3557G>A",
"hgvs_p": "p.Arg1186Gln",
"transcript": "NM_001161565.3",
"protein_id": "NP_001155037.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3557,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161565.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3551G>A",
"hgvs_p": "p.Arg1184Gln",
"transcript": "ENST00000928917.1",
"protein_id": "ENSP00000598976.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928917.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3533G>A",
"hgvs_p": "p.Arg1178Gln",
"transcript": "NM_001161566.3",
"protein_id": "NP_001155038.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161566.3"
},
{
"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": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "n.444G>A",
"hgvs_p": null,
"transcript": "ENST00000459881.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459881.1"
},
{
"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": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "n.928G>A",
"hgvs_p": null,
"transcript": "ENST00000484051.5",
"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": "ENST00000484051.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "n.417G>A",
"hgvs_p": null,
"transcript": "ENST00000487846.1",
"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,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
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"hgvs_c": "n.310-41212C>T",
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"biotype": "pseudogene",
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{
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],
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"biotype": "pseudogene",
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{
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"strand": true,
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],
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"exon_count": 3,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ENSG00000286856",
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"hgvs_c": "n.485-41212C>T",
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"transcript": "ENST00000834082.1",
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"biotype": "pseudogene",
"feature": "ENST00000834082.1"
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],
"gene_symbol": "TNIK",
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"dbsnp": "rs764331012",
"frequency_reference_population": 0.000009915815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000957799,
"gnomad_genomes_af": 0.0000131666,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8628674149513245,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015028.4",
"gene_symbol": "TNIK",
"hgnc_id": 30765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3809G>A",
"hgvs_p": "p.Arg1270Gln"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000834079.1",
"gene_symbol": "ENSG00000286856",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.310-41212C>T",
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}
],
"clinvar_disease": "TNIK-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "TNIK-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}