← 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: 17-17813391-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17813391&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17813391,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001005291.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3191G>T",
"hgvs_p": "p.Arg1064Leu",
"transcript": "NM_004176.5",
"protein_id": "NP_004167.3",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261646.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004176.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3191G>T",
"hgvs_p": "p.Arg1064Leu",
"transcript": "ENST00000261646.11",
"protein_id": "ENSP00000261646.5",
"transcript_support_level": 1,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004176.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261646.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3281G>T",
"hgvs_p": "p.Arg1094Leu",
"transcript": "ENST00000355815.8",
"protein_id": "ENSP00000348069.4",
"transcript_support_level": 1,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355815.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3281G>T",
"hgvs_p": "p.Arg1094Leu",
"transcript": "NM_001005291.3",
"protein_id": "NP_001005291.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005291.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3278G>T",
"hgvs_p": "p.Arg1093Leu",
"transcript": "NM_001388385.1",
"protein_id": "NP_001375314.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3278,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388385.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3275G>T",
"hgvs_p": "p.Arg1092Leu",
"transcript": "ENST00000892469.1",
"protein_id": "ENSP00000562529.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892469.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3230G>T",
"hgvs_p": "p.Arg1077Leu",
"transcript": "NM_001388387.1",
"protein_id": "NP_001375316.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3230,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388387.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3188G>T",
"hgvs_p": "p.Arg1063Leu",
"transcript": "ENST00000892473.1",
"protein_id": "ENSP00000562532.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892473.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3185G>T",
"hgvs_p": "p.Arg1062Leu",
"transcript": "NM_001388389.1",
"protein_id": "NP_001375318.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388389.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3185G>T",
"hgvs_p": "p.Arg1062Leu",
"transcript": "ENST00000892472.1",
"protein_id": "ENSP00000562530.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892472.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3173G>T",
"hgvs_p": "p.Arg1058Leu",
"transcript": "NM_001388390.1",
"protein_id": "NP_001375319.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388390.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3173G>T",
"hgvs_p": "p.Arg1058Leu",
"transcript": "ENST00000892477.1",
"protein_id": "ENSP00000562536.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892477.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3164G>T",
"hgvs_p": "p.Arg1055Leu",
"transcript": "NM_001388391.1",
"protein_id": "NP_001375320.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3164,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388391.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3164G>T",
"hgvs_p": "p.Arg1055Leu",
"transcript": "ENST00000918821.1",
"protein_id": "ENSP00000588880.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3164,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918821.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3128G>T",
"hgvs_p": "p.Arg1043Leu",
"transcript": "ENST00000892480.1",
"protein_id": "ENSP00000562539.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892480.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3119G>T",
"hgvs_p": "p.Arg1040Leu",
"transcript": "NM_001321096.3",
"protein_id": "NP_001308025.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321096.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3047G>T",
"hgvs_p": "p.Arg1016Leu",
"transcript": "ENST00000918822.1",
"protein_id": "ENSP00000588881.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918822.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2969G>T",
"hgvs_p": "p.Arg990Leu",
"transcript": "NM_001388392.1",
"protein_id": "NP_001375321.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388392.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2810G>T",
"hgvs_p": "p.Arg937Leu",
"transcript": "NM_001388393.1",
"protein_id": "NP_001375322.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2810,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388393.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2759G>T",
"hgvs_p": "p.Arg920Leu",
"transcript": "NM_001388394.1",
"protein_id": "NP_001375323.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2759,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388394.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2759G>T",
"hgvs_p": "p.Arg920Leu",
"transcript": "ENST00000892475.1",
"protein_id": "ENSP00000562534.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2759,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892475.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.1934G>T",
"hgvs_p": "p.Arg645Leu",
"transcript": "ENST00000918823.1",
"protein_id": "ENSP00000588882.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 728,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918823.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.401G>T",
"hgvs_p": "p.Arg134Leu",
"transcript": "ENST00000478616.1",
"protein_id": "ENSP00000464923.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 163,
"cds_start": 401,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478616.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3113G>T",
"hgvs_p": "p.Arg1038Leu",
"transcript": "XM_047436580.1",
"protein_id": "XP_047292536.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3113,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436580.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3119G>T",
"hgvs_p": "p.Arg1040Leu",
"transcript": "XM_047436581.1",
"protein_id": "XP_047292537.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3102+178G>T",
"hgvs_p": null,
"transcript": "NM_001388386.1",
"protein_id": "NP_001375315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": null,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3057+178G>T",
"hgvs_p": null,
"transcript": "NM_001388388.1",
"protein_id": "NP_001375317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": null,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3102+178G>T",
"hgvs_p": null,
"transcript": "ENST00000395757.6",
"protein_id": "ENSP00000379106.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395757.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.333+178G>T",
"hgvs_p": null,
"transcript": "ENST00000486311.5",
"protein_id": "ENSP00000466453.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486311.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.3851G>T",
"hgvs_p": null,
"transcript": "ENST00000395751.8",
"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": "retained_intron",
"feature": "ENST00000395751.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.*1884G>T",
"hgvs_p": null,
"transcript": "ENST00000395756.5",
"protein_id": "ENSP00000474121.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000395756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.290G>T",
"hgvs_p": null,
"transcript": "ENST00000485080.6",
"protein_id": "ENSP00000466643.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000485080.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.50G>T",
"hgvs_p": null,
"transcript": "ENST00000578469.1",
"protein_id": "ENSP00000465747.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000578469.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.2894G>T",
"hgvs_p": null,
"transcript": "ENST00000662439.1",
"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": "retained_intron",
"feature": "ENST00000662439.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.3360G>T",
"hgvs_p": null,
"transcript": "NR_170943.1",
"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": "NR_170943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.3360G>T",
"hgvs_p": null,
"transcript": "NR_170944.1",
"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": "NR_170944.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.3450G>T",
"hgvs_p": null,
"transcript": "NR_170945.1",
"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": "NR_170945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.3360G>T",
"hgvs_p": null,
"transcript": "NR_170990.1",
"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": "NR_170990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "n.*1884G>T",
"hgvs_p": null,
"transcript": "ENST00000395756.5",
"protein_id": "ENSP00000474121.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000395756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6777",
"gene_hgnc_id": 50173,
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"transcript": "ENST00000613934.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "miRNA",
"feature": "ENST00000613934.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6777",
"gene_hgnc_id": 50173,
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"transcript": "NR_106835.1",
"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": "NR_106835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6777",
"gene_hgnc_id": 50173,
"hgvs_c": "n.*89G>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_2969",
"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": "miRNA",
"feature": "unassigned_transcript_2969"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6777",
"gene_hgnc_id": 50173,
"hgvs_c": "n.*127G>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_2970",
"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": "miRNA",
"feature": "unassigned_transcript_2970"
}
],
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"dbsnp": "rs564483083",
"frequency_reference_population": 0.0000013814406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138144,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7618757486343384,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
"alphamissense_score": 0.4434,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.742,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005291.3",
"gene_symbol": "SREBF1",
"hgnc_id": 11289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3281G>T",
"hgvs_p": "p.Arg1094Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_106835.1",
"gene_symbol": "MIR6777",
"hgnc_id": 50173,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*89G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}