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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-11022384-CCGCTGGCCACTGGCCATCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11022384&ref=CCGCTGGCCACTGGCCATCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11022384,
"ref": "CCGCTGGCCACTGGCCATCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000287766.10",
"consequences": [
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "NM_003042.4",
"protein_id": "NP_003033.3",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000287766.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000287766.10",
"protein_id": "ENSP00000287766.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_003042.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.712_730delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu238fs",
"transcript": "ENST00000698198.1",
"protein_id": "ENSP00000513602.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 623,
"cds_start": 712,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000644803.1",
"protein_id": "ENSP00000494469.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 608,
"cds_start": 640,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "NM_001348250.2",
"protein_id": "NP_001335179.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000642201.1",
"protein_id": "ENSP00000494778.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000642515.1",
"protein_id": "ENSP00000496348.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000642639.1",
"protein_id": "ENSP00000494191.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000642735.1",
"protein_id": "ENSP00000494050.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000642767.1",
"protein_id": "ENSP00000494346.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000642820.1",
"protein_id": "ENSP00000495900.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
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"cdna_start": 1221,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "LAITLAI",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000643396.1",
"protein_id": "ENSP00000494136.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
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"cdna_start": 3381,
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"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000643498.1",
"protein_id": "ENSP00000494997.1",
"transcript_support_level": null,
"aa_start": 214,
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"aa_length": 599,
"cds_start": 640,
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"cdna_start": 1089,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000645029.1",
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"cdna_start": 1080,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000645054.1",
"protein_id": "ENSP00000495751.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 640,
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"feature": null
},
{
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000645592.1",
"protein_id": "ENSP00000496619.1",
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"aa_start": 214,
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"cdna_start": 961,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000645974.1",
"protein_id": "ENSP00000496390.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
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"cds_start": 640,
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"cdna_start": 1340,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000646022.1",
"protein_id": "ENSP00000494134.1",
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},
{
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"consequences": [
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],
"exon_rank": 9,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000646060.1",
"protein_id": "ENSP00000496302.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000646570.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000646702.1",
"protein_id": "ENSP00000496697.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 599,
"cds_start": 640,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 975,
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"cdna_length": 4343,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs",
"transcript": "ENST00000646924.1",
"protein_id": "ENSP00000493591.1",
"transcript_support_level": null,
"aa_start": 214,
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"cds_start": 640,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*213_*231delCTGGCCATCACGCTGGCCA",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.*23_*41delCTGGCCATCACGCTGGCCA",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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.*23_*41delCTGGCCATCACGCTGGCCA",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"dbsnp": "rs1553688970",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.771,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000287766.10",
"gene_symbol": "SLC6A1",
"hgnc_id": 11042,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.640_658delCTGGCCATCACGCTGGCCA",
"hgvs_p": "p.Leu214fs"
}
],
"clinvar_disease": "Epilepsy with myoclonic atonic seizures,Inborn genetic diseases,SLC6A1-related neurodevelopmental disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"phenotype_combined": "not provided|Epilepsy with myoclonic atonic seizures|SLC6A1-related neurodevelopmental disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}