← 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: 3-113623530-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113623530&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 113623530,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001322294.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Lys732Glu",
"transcript": "NM_017699.3",
"protein_id": "NP_060169.2",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 827,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264852.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017699.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Lys732Glu",
"transcript": "ENST00000264852.9",
"protein_id": "ENSP00000264852.4",
"transcript_support_level": 2,
"aa_start": 732,
"aa_end": null,
"aa_length": 827,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017699.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264852.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Lys737Glu",
"transcript": "ENST00000393830.5",
"protein_id": "ENSP00000377416.4",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 832,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393830.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2254A>G",
"hgvs_p": "p.Lys752Glu",
"transcript": "ENST00000950250.1",
"protein_id": "ENSP00000620309.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 847,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950250.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2212A>G",
"hgvs_p": "p.Lys738Glu",
"transcript": "NM_001322294.2",
"protein_id": "NP_001309223.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 833,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322294.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Lys737Glu",
"transcript": "NM_001308350.2",
"protein_id": "NP_001295279.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 832,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308350.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2197A>G",
"hgvs_p": "p.Lys733Glu",
"transcript": "ENST00000876685.1",
"protein_id": "ENSP00000546744.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 828,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876685.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2125A>G",
"hgvs_p": "p.Lys709Glu",
"transcript": "NM_001322295.2",
"protein_id": "NP_001309224.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 804,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322295.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Lys704Glu",
"transcript": "ENST00000876686.1",
"protein_id": "ENSP00000546745.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 799,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876686.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Lys670Glu",
"transcript": "ENST00000876692.1",
"protein_id": "ENSP00000546751.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 792,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876692.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2197A>G",
"hgvs_p": "p.Lys733Glu",
"transcript": "ENST00000876689.1",
"protein_id": "ENSP00000546748.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 790,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876689.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Lys732Glu",
"transcript": "ENST00000876691.1",
"protein_id": "ENSP00000546750.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 789,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876691.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Lys675Glu",
"transcript": "NM_001322296.2",
"protein_id": "NP_001309225.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 770,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322296.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Lys670Glu",
"transcript": "ENST00000876687.1",
"protein_id": "ENSP00000546746.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 765,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876687.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu",
"transcript": "ENST00000876695.1",
"protein_id": "ENSP00000546754.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 763,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876695.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1984A>G",
"hgvs_p": "p.Lys662Glu",
"transcript": "ENST00000876693.1",
"protein_id": "ENSP00000546752.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 757,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876693.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Lys619Glu",
"transcript": "ENST00000876694.1",
"protein_id": "ENSP00000546753.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 714,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876694.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1756A>G",
"hgvs_p": "p.Lys586Glu",
"transcript": "NM_001322297.2",
"protein_id": "NP_001309226.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 681,
"cds_start": 1756,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322297.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Lys556Glu",
"transcript": "NM_001322298.2",
"protein_id": "NP_001309227.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 651,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322298.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "NM_001322299.2",
"protein_id": "NP_001309228.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 580,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322299.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Lys310Glu",
"transcript": "NM_001322300.2",
"protein_id": "NP_001309229.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 405,
"cds_start": 928,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322300.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2197A>G",
"hgvs_p": "p.Lys733Glu",
"transcript": "XM_011512939.4",
"protein_id": "XP_011511241.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 828,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512939.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Lys737Glu",
"transcript": "XM_047448376.1",
"protein_id": "XP_047304332.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 828,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448376.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Lys705Glu",
"transcript": "XM_047448377.1",
"protein_id": "XP_047304333.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 800,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448377.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Lys704Glu",
"transcript": "XM_047448378.1",
"protein_id": "XP_047304334.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 799,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448378.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Lys737Glu",
"transcript": "XM_011512941.4",
"protein_id": "XP_011511243.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 794,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512941.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2197A>G",
"hgvs_p": "p.Lys733Glu",
"transcript": "XM_047448379.1",
"protein_id": "XP_047304335.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 790,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448379.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Lys732Glu",
"transcript": "XM_047448380.1",
"protein_id": "XP_047304336.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 789,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448380.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Lys671Glu",
"transcript": "XM_047448381.1",
"protein_id": "XP_047304337.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 766,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448381.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Lys670Glu",
"transcript": "XM_047448382.1",
"protein_id": "XP_047304338.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 765,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448382.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Lys705Glu",
"transcript": "XM_047448383.1",
"protein_id": "XP_047304339.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 762,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448383.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Lys704Glu",
"transcript": "XM_047448384.1",
"protein_id": "XP_047304340.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 761,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448384.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Lys670Glu",
"transcript": "XM_047448385.1",
"protein_id": "XP_047304341.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 727,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448385.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1588A>G",
"hgvs_p": "p.Lys530Glu",
"transcript": "XM_017006666.2",
"protein_id": "XP_016862155.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 625,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006666.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1468A>G",
"hgvs_p": "p.Lys490Glu",
"transcript": "XM_017006667.3",
"protein_id": "XP_016862156.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 585,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006667.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Lys485Glu",
"transcript": "XM_047448386.1",
"protein_id": "XP_047304342.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 580,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448386.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Lys310Glu",
"transcript": "XM_017006668.3",
"protein_id": "XP_016862157.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 405,
"cds_start": 928,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006668.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.1048A>G",
"hgvs_p": null,
"transcript": "ENST00000463226.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.2682A>G",
"hgvs_p": null,
"transcript": "NR_136280.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136280.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.2621A>G",
"hgvs_p": null,
"transcript": "NR_136281.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136281.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.2602A>G",
"hgvs_p": null,
"transcript": "NR_136282.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136282.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.2465A>G",
"hgvs_p": null,
"transcript": "NR_136283.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136283.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.2372A>G",
"hgvs_p": null,
"transcript": "NR_136284.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136284.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"hgvs_c": "n.2235A>G",
"hgvs_p": null,
"transcript": "NR_136285.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136285.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124909410",
"gene_hgnc_id": null,
"hgvs_c": "n.-97T>C",
"hgvs_p": null,
"transcript": "XR_007096007.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096007.1"
}
],
"gene_symbol": "SIDT1",
"gene_hgnc_id": 25967,
"dbsnp": "rs531258462",
"frequency_reference_population": 0.000055185446,
"hom_count_reference_population": 0,
"allele_count_reference_population": 89,
"gnomad_exomes_af": 0.0000513533,
"gnomad_genomes_af": 0.0000919395,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10566511750221252,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5479999780654907,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.418687111487268,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001322294.2",
"gene_symbol": "SIDT1",
"hgnc_id": 25967,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2212A>G",
"hgvs_p": "p.Lys738Glu"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XR_007096007.1",
"gene_symbol": "LOC124909410",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-97T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}