← 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: 1-47302242-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47302242&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STIL",
"hgnc_id": 10879,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001048166.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 805467,
"alphamissense_prediction": null,
"alphamissense_score": 0.0486,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " autosomal recessive, primary,Microcephaly 7,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 5.960444582342461e-7,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001048166.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371877.8",
"protein_coding": true,
"protein_id": "NP_001041631.1",
"strand": false,
"transcript": "NM_001048166.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000371877.8",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001048166.1",
"protein_coding": true,
"protein_id": "ENSP00000360944.3",
"strand": false,
"transcript": "ENST00000371877.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5225,
"cdna_start": 621,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000360380.7",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353544.3",
"strand": false,
"transcript": "ENST00000360380.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396221.6",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379523.2",
"strand": false,
"transcript": "ENST00000396221.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3672,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000447475.7",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411664.3",
"strand": false,
"transcript": "ENST00000447475.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 461,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936921.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606980.1",
"strand": false,
"transcript": "ENST00000936921.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5086,
"cdna_start": 482,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936923.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606982.1",
"strand": false,
"transcript": "ENST00000936923.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5225,
"cdna_start": 621,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282936.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269865.1",
"strand": false,
"transcript": "NM_001282936.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003035.2",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003026.2",
"strand": false,
"transcript": "NM_003035.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5079,
"cdna_start": 483,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893434.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563493.1",
"strand": false,
"transcript": "ENST00000893434.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5080,
"cdna_start": 476,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936918.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606977.1",
"strand": false,
"transcript": "ENST00000936918.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5087,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936919.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606978.1",
"strand": false,
"transcript": "ENST00000936919.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5341,
"cdna_start": 740,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936924.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606983.1",
"strand": false,
"transcript": "ENST00000936924.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4956,
"cdna_start": 359,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936925.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606984.1",
"strand": false,
"transcript": "ENST00000936925.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6083,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948671.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618730.1",
"strand": false,
"transcript": "ENST00000948671.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5174,
"cdna_start": 621,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282937.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269866.1",
"strand": false,
"transcript": "NM_001282937.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4980,
"cdna_start": 432,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893433.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563492.1",
"strand": false,
"transcript": "ENST00000893433.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 476,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936920.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606979.1",
"strand": false,
"transcript": "ENST00000936920.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 461,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936922.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606981.1",
"strand": false,
"transcript": "ENST00000936922.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5052,
"cdna_start": 499,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936926.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606985.1",
"strand": false,
"transcript": "ENST00000936926.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5087,
"cdna_start": 621,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282938.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269867.1",
"strand": false,
"transcript": "NM_001282938.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 923,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001377417.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364346.1",
"strand": false,
"transcript": "NM_001377417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 919,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000337817.10",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337367.6",
"strand": false,
"transcript": "ENST00000337817.10",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682977.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506981.1",
"strand": false,
"transcript": "ENST00000682977.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3672,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282939.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269868.1",
"strand": false,
"transcript": "NM_001282939.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5027,
"cdna_start": 892,
"cds_end": null,
"cds_length": 3402,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893432.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563491.1",
"strand": false,
"transcript": "ENST00000893432.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 676,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 257,
"cds_end": null,
"cds_length": 2033,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000436811.2",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409087.2",
"strand": false,
"transcript": "ENST00000436811.2",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5093,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006710834.4",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710897.1",
"strand": false,
"transcript": "XM_006710834.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5119,
"cdna_start": 512,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011541991.3",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540293.1",
"strand": false,
"transcript": "XM_011541991.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5102,
"cdna_start": 495,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011541992.3",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540294.1",
"strand": false,
"transcript": "XM_011541992.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5386,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428300.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284256.1",
"strand": false,
"transcript": "XM_047428300.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428304.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284260.1",
"strand": false,
"transcript": "XM_047428304.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428310.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284266.1",
"strand": false,
"transcript": "XM_047428310.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5530,
"cdna_start": 923,
"cds_end": null,
"cds_length": 3867,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428312.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284268.1",
"strand": false,
"transcript": "XM_047428312.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5383,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428314.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284270.1",
"strand": false,
"transcript": "XM_047428314.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5099,
"cdna_start": 495,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428316.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284272.1",
"strand": false,
"transcript": "XM_047428316.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428317.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284273.1",
"strand": false,
"transcript": "XM_047428317.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 512,
"cds_end": null,
"cds_length": 3864,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428320.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284276.1",
"strand": false,
"transcript": "XM_047428320.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011541994.3",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540296.1",
"strand": false,
"transcript": "XM_011541994.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": 512,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428331.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284287.1",
"strand": false,
"transcript": "XM_047428331.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5048,
"cdna_start": 495,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428336.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284292.1",
"strand": false,
"transcript": "XM_047428336.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 997,
"cds_end": null,
"cds_length": 3813,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047428337.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284293.1",
"strand": false,
"transcript": "XM_047428337.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428343.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284299.1",
"strand": false,
"transcript": "XM_047428343.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428344.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284300.1",
"strand": false,
"transcript": "XM_047428344.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5860,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428348.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284304.1",
"strand": false,
"transcript": "XM_047428348.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5877,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428359.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284315.1",
"strand": false,
"transcript": "XM_047428359.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5489,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 3726,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047428368.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284324.1",
"strand": false,
"transcript": "XM_047428368.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3723,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017002123.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857612.1",
"strand": false,
"transcript": "XM_017002123.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3723,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428374.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284330.1",
"strand": false,
"transcript": "XM_047428374.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 512,
"cds_end": null,
"cds_length": 3723,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428377.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284333.1",
"strand": false,
"transcript": "XM_047428377.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5874,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 3723,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428384.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284340.1",
"strand": false,
"transcript": "XM_047428384.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4949,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3723,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428385.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284341.1",
"strand": false,
"transcript": "XM_047428385.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": 495,
"cds_end": null,
"cds_length": 3723,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428388.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284344.1",
"strand": false,
"transcript": "XM_047428388.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3672,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011541998.3",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540300.1",
"strand": false,
"transcript": "XM_011541998.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3672,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428390.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284346.1",
"strand": false,
"transcript": "XM_047428390.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 512,
"cds_end": null,
"cds_length": 3672,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428392.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284348.1",
"strand": false,
"transcript": "XM_047428392.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 969,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2910,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428394.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284350.1",
"strand": false,
"transcript": "XM_047428394.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 963,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2892,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011542001.2",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540303.1",
"strand": false,
"transcript": "XM_011542001.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 963,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4868,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2892,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428398.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284354.1",
"strand": false,
"transcript": "XM_047428398.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 962,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5276,
"cdna_start": 923,
"cds_end": null,
"cds_length": 2889,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428403.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284359.1",
"strand": false,
"transcript": "XM_047428403.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 962,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4865,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2889,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428404.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284360.1",
"strand": false,
"transcript": "XM_047428404.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 945,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2838,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017002126.2",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857615.1",
"strand": false,
"transcript": "XM_017002126.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 945,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2838,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428408.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284364.1",
"strand": false,
"transcript": "XM_047428408.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 945,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4797,
"cdna_start": 495,
"cds_end": null,
"cds_length": 2838,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428412.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284368.1",
"strand": false,
"transcript": "XM_047428412.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2751,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428414.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284370.1",
"strand": false,
"transcript": "XM_047428414.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5626,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2751,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428417.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284373.1",
"strand": false,
"transcript": "XM_047428417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2751,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428426.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284382.1",
"strand": false,
"transcript": "XM_047428426.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4624,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2748,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428432.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284388.1",
"strand": false,
"transcript": "XM_047428432.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 2748,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428433.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284389.1",
"strand": false,
"transcript": "XM_047428433.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": 997,
"cds_end": null,
"cds_length": 2748,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047428438.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284394.1",
"strand": false,
"transcript": "XM_047428438.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2697,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047428440.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284396.1",
"strand": false,
"transcript": "XM_047428440.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 898,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2697,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047428444.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284400.1",
"strand": false,
"transcript": "XM_047428444.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 874,
"aa_ref": "A",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2625,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017002127.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857616.1",
"strand": false,
"transcript": "XM_017002127.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000413565.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "n.534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000413565.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682165.1",
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"hgvs_c": "n.80C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682165.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3125630",
"effect": "missense_variant",
"frequency_reference_population": 0.50131136,
"gene_hgnc_id": 10879,
"gene_symbol": "STIL",
"gnomad_exomes_ac": 718056,
"gnomad_exomes_af": 0.493597,
"gnomad_exomes_homalt": 181655,
"gnomad_genomes_ac": 87411,
"gnomad_genomes_af": 0.575148,
"gnomad_genomes_homalt": 27290,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 208945,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Microcephaly 7, primary, autosomal recessive|not specified|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.354,
"pos": 47302242,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.173,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001048166.1"
}
]
}