← 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: 3-11017256-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11017256&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "SLC6A1",
"hgnc_id": 11042,
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001348251.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC6A1-AS1",
"hgnc_id": 40546,
"hgvs_c": "n.105+1864G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -10,
"transcript": "ENST00000414969.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "3",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Epilepsy with myoclonic atonic seizures,Inborn genetic diseases,SLC6A1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003042.4",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287766.10",
"protein_coding": true,
"protein_id": "NP_003033.3",
"strand": true,
"transcript": "NM_003042.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000287766.10",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003042.4",
"protein_coding": true,
"protein_id": "ENSP00000287766.4",
"strand": true,
"transcript": "ENST00000287766.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348251.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335180.1",
"strand": true,
"transcript": "NM_001348251.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000644314.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493813.1",
"strand": true,
"transcript": "ENST00000644314.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348252.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335181.1",
"strand": true,
"transcript": "NM_001348252.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348253.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335182.1",
"strand": true,
"transcript": "NM_001348253.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000645281.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493746.1",
"strand": true,
"transcript": "ENST00000645281.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645776.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495375.1",
"strand": true,
"transcript": "ENST00000645776.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646072.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494002.1",
"strand": true,
"transcript": "ENST00000646072.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 124,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": null,
"cds_end": null,
"cds_length": 376,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425938.6",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411689.2",
"strand": true,
"transcript": "ENST00000425938.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 623,
"aa_ref": "T",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 198,
"cds_end": null,
"cds_length": 1872,
"cds_start": 117,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000698198.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.117C>T",
"hgvs_p": "p.Thr39Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513602.1",
"strand": true,
"transcript": "ENST00000698198.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1827,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000644803.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494469.1",
"strand": true,
"transcript": "ENST00000644803.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4417,
"cdna_start": 381,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348250.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335179.1",
"strand": true,
"transcript": "NM_001348250.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 199,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642201.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494778.1",
"strand": true,
"transcript": "ENST00000642201.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000642515.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496348.1",
"strand": true,
"transcript": "ENST00000642515.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642639.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494191.1",
"strand": true,
"transcript": "ENST00000642639.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000642735.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494050.1",
"strand": true,
"transcript": "ENST00000642735.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 401,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642767.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494346.1",
"strand": true,
"transcript": "ENST00000642767.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000642820.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495900.1",
"strand": true,
"transcript": "ENST00000642820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6767,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000643396.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494136.1",
"strand": true,
"transcript": "ENST00000643396.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 494,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643498.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494997.1",
"strand": true,
"transcript": "ENST00000643498.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000645029.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496171.1",
"strand": true,
"transcript": "ENST00000645029.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000645054.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495751.1",
"strand": true,
"transcript": "ENST00000645054.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000645592.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496619.1",
"strand": true,
"transcript": "ENST00000645592.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4764,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000645974.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496390.1",
"strand": true,
"transcript": "ENST00000645974.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646022.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494134.1",
"strand": true,
"transcript": "ENST00000646022.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646060.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496302.1",
"strand": true,
"transcript": "ENST00000646060.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646570.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496064.1",
"strand": true,
"transcript": "ENST00000646570.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646702.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496697.1",
"strand": true,
"transcript": "ENST00000646702.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000646924.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493591.1",
"strand": true,
"transcript": "ENST00000646924.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000647194.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496238.1",
"strand": true,
"transcript": "ENST00000647194.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 458,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1377,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646487.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496768.1",
"strand": true,
"transcript": "ENST00000646487.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 380,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 126,
"cds_end": null,
"cds_length": 1143,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647384.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493779.1",
"strand": true,
"transcript": "ENST00000647384.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 184,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 249,
"cds_end": null,
"cds_length": 555,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000644175.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493788.1",
"strand": true,
"transcript": "ENST00000644175.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 184,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 207,
"cds_end": null,
"cds_length": 555,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646088.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494608.1",
"strand": true,
"transcript": "ENST00000646088.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6779,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005265411.6",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265468.1",
"strand": true,
"transcript": "XM_005265411.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7469,
"cdna_start": 3433,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011534027.4",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532329.1",
"strand": true,
"transcript": "XM_011534027.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6261,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017007071.3",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862560.1",
"strand": true,
"transcript": "XM_017007071.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "T",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5571,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1800,
"cds_start": 45,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017007072.3",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Thr15Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862561.1",
"strand": true,
"transcript": "XM_017007072.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348251.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335180.1",
"strand": true,
"transcript": "NM_001348251.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000644314.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493813.1",
"strand": true,
"transcript": "ENST00000644314.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348252.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335181.1",
"strand": true,
"transcript": "NM_001348252.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348253.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335182.1",
"strand": true,
"transcript": "NM_001348253.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000645281.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493746.1",
"strand": true,
"transcript": "ENST00000645281.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645776.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495375.1",
"strand": true,
"transcript": "ENST00000645776.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646072.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-168C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494002.1",
"strand": true,
"transcript": "ENST00000646072.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 124,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": null,
"cds_end": null,
"cds_length": 376,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425938.6",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-126C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411689.2",
"strand": true,
"transcript": "ENST00000425938.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000460480.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.45C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494289.1",
"strand": true,
"transcript": "ENST00000460480.2",
"transcript_support_level": 4
},
{
"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": 2887,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000462473.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.393C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462473.2",
"transcript_support_level": 3
},
{
"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": 2310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642831.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.436C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000642831.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645575.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.45C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493666.1",
"strand": true,
"transcript": "ENST00000645575.1",
"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": 2873,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646035.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.367C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646035.1",
"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": 6350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000646886.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.400C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000646886.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414969.2",
"gene_hgnc_id": 40546,
"gene_symbol": "SLC6A1-AS1",
"hgvs_c": "n.105+1864G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000414969.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_046647.1",
"gene_hgnc_id": 40546,
"gene_symbol": "SLC6A1-AS1",
"hgvs_c": "n.105+1864G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_046647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 513,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": null,
"cds_end": null,
"cds_length": 1544,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645985.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.-148C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494893.1",
"strand": true,
"transcript": "ENST00000645985.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643326.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.-124C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496465.1",
"strand": true,
"transcript": "ENST00000643326.1",
"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": 2008,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645598.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "n.-124C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000645598.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs761463345",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"frequency_reference_population": 0.00001920713,
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.000017786,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328606,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided|Inborn genetic diseases|Epilepsy with myoclonic atonic seizures|SLC6A1-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -4.346,
"pos": 11017256,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001348251.2"
}
]
}