← 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: 3-11022405-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11022405&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11022405,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003042.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "NM_003042.4",
"protein_id": "NP_003033.3",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000287766.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003042.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000287766.10",
"protein_id": "ENSP00000287766.4",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_003042.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287766.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.723G>C",
"hgvs_p": "p.Thr241Thr",
"transcript": "ENST00000698198.1",
"protein_id": "ENSP00000513602.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 623,
"cds_start": 723,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698198.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000644803.1",
"protein_id": "ENSP00000494469.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 608,
"cds_start": 651,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644803.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "NM_001348250.2",
"protein_id": "NP_001335179.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348250.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000642201.1",
"protein_id": "ENSP00000494778.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642201.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000642515.1",
"protein_id": "ENSP00000496348.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642515.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000642639.1",
"protein_id": "ENSP00000494191.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642639.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000642735.1",
"protein_id": "ENSP00000494050.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642735.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000642767.1",
"protein_id": "ENSP00000494346.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642767.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000642820.1",
"protein_id": "ENSP00000495900.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642820.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000643396.1",
"protein_id": "ENSP00000494136.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643396.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000643498.1",
"protein_id": "ENSP00000494997.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643498.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000645029.1",
"protein_id": "ENSP00000496171.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645029.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000645054.1",
"protein_id": "ENSP00000495751.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645054.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000645592.1",
"protein_id": "ENSP00000496619.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645592.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000645974.1",
"protein_id": "ENSP00000496390.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645974.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000646022.1",
"protein_id": "ENSP00000494134.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646022.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000646060.1",
"protein_id": "ENSP00000496302.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646060.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000646570.1",
"protein_id": "ENSP00000496064.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646570.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000646702.1",
"protein_id": "ENSP00000496697.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646702.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000646924.1",
"protein_id": "ENSP00000493591.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646924.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000647194.1",
"protein_id": "ENSP00000496238.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647194.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Thr153Thr",
"transcript": "ENST00000645985.1",
"protein_id": "ENSP00000494893.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 513,
"cds_start": 459,
"cds_end": null,
"cds_length": 1544,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645985.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Thr97Thr",
"transcript": "NM_001348251.2",
"protein_id": "NP_001335180.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 479,
"cds_start": 291,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348251.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Thr97Thr",
"transcript": "ENST00000644314.1",
"protein_id": "ENSP00000493813.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 479,
"cds_start": 291,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644314.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.228G>C",
"hgvs_p": "p.Thr76Thr",
"transcript": "ENST00000646487.1",
"protein_id": "ENSP00000496768.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 458,
"cds_start": 228,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646487.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.117G>C",
"hgvs_p": "p.Thr39Thr",
"transcript": "NM_001348252.2",
"protein_id": "NP_001335181.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 421,
"cds_start": 117,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348252.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.117G>C",
"hgvs_p": "p.Thr39Thr",
"transcript": "NM_001348253.2",
"protein_id": "NP_001335182.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 421,
"cds_start": 117,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348253.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.117G>C",
"hgvs_p": "p.Thr39Thr",
"transcript": "ENST00000645281.1",
"protein_id": "ENSP00000493746.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 421,
"cds_start": 117,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645281.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.117G>C",
"hgvs_p": "p.Thr39Thr",
"transcript": "ENST00000645776.1",
"protein_id": "ENSP00000495375.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 421,
"cds_start": 117,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645776.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.117G>C",
"hgvs_p": "p.Thr39Thr",
"transcript": "ENST00000646072.1",
"protein_id": "ENSP00000494002.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 421,
"cds_start": 117,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646072.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "ENST00000647384.1",
"protein_id": "ENSP00000493779.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 380,
"cds_start": 651,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647384.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Thr97Thr",
"transcript": "ENST00000425938.6",
"protein_id": "ENSP00000411689.2",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 124,
"cds_start": 291,
"cds_end": null,
"cds_length": 376,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425938.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "XM_005265411.6",
"protein_id": "XP_005265468.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 6779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265411.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "XM_011534027.4",
"protein_id": "XP_011532329.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534027.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "XM_017007071.3",
"protein_id": "XP_016862560.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007071.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr",
"transcript": "XM_017007072.3",
"protein_id": "XP_016862561.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 599,
"cds_start": 651,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007072.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.*224G>C",
"hgvs_p": null,
"transcript": "ENST00000460480.2",
"protein_id": "ENSP00000494289.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.1286G>C",
"hgvs_p": null,
"transcript": "ENST00000642766.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.1042G>C",
"hgvs_p": null,
"transcript": "ENST00000642831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000642831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.*34G>C",
"hgvs_p": null,
"transcript": "ENST00000643326.1",
"protein_id": "ENSP00000496465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.*34G>C",
"hgvs_p": null,
"transcript": "ENST00000645575.1",
"protein_id": "ENSP00000493666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.483G>C",
"hgvs_p": null,
"transcript": "ENST00000645598.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.3019G>C",
"hgvs_p": null,
"transcript": "ENST00000646886.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6350,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.*224G>C",
"hgvs_p": null,
"transcript": "ENST00000460480.2",
"protein_id": "ENSP00000494289.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.*34G>C",
"hgvs_p": null,
"transcript": "ENST00000643326.1",
"protein_id": "ENSP00000496465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "n.*34G>C",
"hgvs_p": null,
"transcript": "ENST00000645575.1",
"protein_id": "ENSP00000493666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645575.1"
}
],
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"dbsnp": "rs6344",
"frequency_reference_population": 0.0000020532082,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205321,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.329,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003042.4",
"gene_symbol": "SLC6A1",
"hgnc_id": 11042,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Thr217Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}