← 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: 1-47289566-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47289566&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 47289566,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000371877.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "NM_001048166.1",
"protein_id": "NP_001041631.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": "ENST00000371877.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "ENST00000371877.8",
"protein_id": "ENSP00000360944.3",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": "NM_001048166.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "ENST00000360380.7",
"protein_id": "ENSP00000353544.3",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "ENST00000396221.6",
"protein_id": "ENSP00000379523.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 1270,
"cds_start": 892,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "ENST00000447475.7",
"protein_id": "ENSP00000411664.3",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 1223,
"cds_start": 751,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "NM_001282936.1",
"protein_id": "NP_001269865.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "NM_003035.2",
"protein_id": "NP_003026.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "NM_001282937.1",
"protein_id": "NP_001269866.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1270,
"cds_start": 892,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "NM_001282938.1",
"protein_id": "NP_001269867.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "NM_001377417.1",
"protein_id": "NP_001364346.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "ENST00000337817.10",
"protein_id": "ENSP00000337367.6",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "ENST00000682977.1",
"protein_id": "ENSP00000506981.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "NM_001282939.1",
"protein_id": "NP_001269868.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1223,
"cds_start": 751,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Asn64Asp",
"transcript": "ENST00000683977.1",
"protein_id": "ENSP00000507568.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 728,
"cds_start": 190,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "ENST00000436811.2",
"protein_id": "ENSP00000409087.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 676,
"cds_start": 892,
"cds_end": null,
"cds_length": 2033,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_006710834.4",
"protein_id": "XP_006710897.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_011541991.3",
"protein_id": "XP_011540293.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 5119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_011541992.3",
"protein_id": "XP_011540294.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428300.1",
"protein_id": "XP_047284256.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 5386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428304.1",
"protein_id": "XP_047284260.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428310.1",
"protein_id": "XP_047284266.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428312.1",
"protein_id": "XP_047284268.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1288,
"cds_start": 892,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428314.1",
"protein_id": "XP_047284270.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428316.1",
"protein_id": "XP_047284272.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428317.1",
"protein_id": "XP_047284273.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428320.1",
"protein_id": "XP_047284276.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1287,
"cds_start": 892,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_011541994.3",
"protein_id": "XP_011540296.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1270,
"cds_start": 892,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428331.1",
"protein_id": "XP_047284287.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1270,
"cds_start": 892,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428336.1",
"protein_id": "XP_047284292.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1270,
"cds_start": 892,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428337.1",
"protein_id": "XP_047284293.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1270,
"cds_start": 892,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428343.1",
"protein_id": "XP_047284299.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428344.1",
"protein_id": "XP_047284300.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428348.1",
"protein_id": "XP_047284304.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 5860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428359.1",
"protein_id": "XP_047284315.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428368.1",
"protein_id": "XP_047284324.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1241,
"cds_start": 751,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_017002123.1",
"protein_id": "XP_016857612.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1240,
"cds_start": 751,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428374.1",
"protein_id": "XP_047284330.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1240,
"cds_start": 751,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428377.1",
"protein_id": "XP_047284333.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1240,
"cds_start": 751,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428384.1",
"protein_id": "XP_047284340.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1240,
"cds_start": 751,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428385.1",
"protein_id": "XP_047284341.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1240,
"cds_start": 751,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428388.1",
"protein_id": "XP_047284344.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1240,
"cds_start": 751,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_011541998.3",
"protein_id": "XP_011540300.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1223,
"cds_start": 751,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428390.1",
"protein_id": "XP_047284346.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1223,
"cds_start": 751,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428392.1",
"protein_id": "XP_047284348.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1223,
"cds_start": 751,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Asn61Asp",
"transcript": "XM_017002124.2",
"protein_id": "XP_016857613.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1051,
"cds_start": 181,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428394.1",
"protein_id": "XP_047284350.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 969,
"cds_start": 892,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_011542001.2",
"protein_id": "XP_011540303.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 963,
"cds_start": 892,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428398.1",
"protein_id": "XP_047284354.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 963,
"cds_start": 892,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428403.1",
"protein_id": "XP_047284359.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 962,
"cds_start": 892,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428404.1",
"protein_id": "XP_047284360.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 962,
"cds_start": 892,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_017002126.2",
"protein_id": "XP_016857615.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 945,
"cds_start": 892,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428408.1",
"protein_id": "XP_047284364.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 945,
"cds_start": 892,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_047428412.1",
"protein_id": "XP_047284368.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 945,
"cds_start": 892,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428414.1",
"protein_id": "XP_047284370.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 916,
"cds_start": 751,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428417.1",
"protein_id": "XP_047284373.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 916,
"cds_start": 751,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 5626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428426.1",
"protein_id": "XP_047284382.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 916,
"cds_start": 751,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428432.1",
"protein_id": "XP_047284388.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 915,
"cds_start": 751,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428433.1",
"protein_id": "XP_047284389.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 915,
"cds_start": 751,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428438.1",
"protein_id": "XP_047284394.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 915,
"cds_start": 751,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428440.1",
"protein_id": "XP_047284396.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 898,
"cds_start": 751,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Asn251Asp",
"transcript": "XM_047428444.1",
"protein_id": "XP_047284400.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 898,
"cds_start": 751,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp",
"transcript": "XM_017002127.1",
"protein_id": "XP_016857616.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 874,
"cds_start": 892,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "n.715A>G",
"hgvs_p": null,
"transcript": "ENST00000682165.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"dbsnp": "rs770213403",
"frequency_reference_population": 0.00004896237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000506365,
"gnomad_genomes_af": 0.0000328757,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05050811171531677,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000371877.8",
"gene_symbol": "STIL",
"hgnc_id": 10879,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Asn298Asp"
}
],
"clinvar_disease": " autosomal recessive, primary,Inborn genetic diseases,Microcephaly 7,STIL-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "not provided|Microcephaly 7, primary, autosomal recessive|Inborn genetic diseases|STIL-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}