← 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: 2-27337932-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27337932&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27337932,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001521.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001035521.3",
"protein_id": "NP_001030598.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "ENST00000264720.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035521.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000264720.8",
"protein_id": "ENSP00000264720.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "NM_001035521.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264720.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000359541.6",
"protein_id": "ENSP00000352536.2",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359541.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000957129.1",
"protein_id": "ENSP00000627188.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 940,
"cds_start": 944,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957129.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001318909.4",
"protein_id": "NP_001305838.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318909.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001388380.3",
"protein_id": "NP_001375309.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388380.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394503.1",
"protein_id": "NP_001381432.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394503.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394504.1",
"protein_id": "NP_001381433.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394504.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394505.1",
"protein_id": "NP_001381434.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394505.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394506.1",
"protein_id": "NP_001381435.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394506.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394507.1",
"protein_id": "NP_001381436.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394507.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394508.1",
"protein_id": "NP_001381437.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394508.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394509.1",
"protein_id": "NP_001381438.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394509.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394510.1",
"protein_id": "NP_001381439.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394510.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394511.1",
"protein_id": "NP_001381440.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394511.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001521.4",
"protein_id": "NP_001512.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001521.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872596.1",
"protein_id": "ENSP00000542655.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872596.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872597.1",
"protein_id": "ENSP00000542656.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872597.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872598.1",
"protein_id": "ENSP00000542657.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872598.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872599.1",
"protein_id": "ENSP00000542658.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872599.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872601.1",
"protein_id": "ENSP00000542660.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872601.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872602.1",
"protein_id": "ENSP00000542661.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872602.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872604.1",
"protein_id": "ENSP00000542663.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872604.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872605.1",
"protein_id": "ENSP00000542664.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872605.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872606.1",
"protein_id": "ENSP00000542665.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872606.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912119.1",
"protein_id": "ENSP00000582178.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912119.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912128.1",
"protein_id": "ENSP00000582187.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912128.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000957130.1",
"protein_id": "ENSP00000627189.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 911,
"cds_start": 944,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957130.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872603.1",
"protein_id": "ENSP00000542662.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 909,
"cds_start": 944,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872603.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.938A>G",
"hgvs_p": "p.Lys313Arg",
"transcript": "ENST00000912124.1",
"protein_id": "ENSP00000582183.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 909,
"cds_start": 938,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912124.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.938A>G",
"hgvs_p": "p.Lys313Arg",
"transcript": "ENST00000957128.1",
"protein_id": "ENSP00000627187.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 909,
"cds_start": 938,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957128.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394512.1",
"protein_id": "NP_001381441.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 907,
"cds_start": 944,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394512.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912121.1",
"protein_id": "ENSP00000582180.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 907,
"cds_start": 944,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912121.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394514.1",
"protein_id": "NP_001381443.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 885,
"cds_start": 944,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394514.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912123.1",
"protein_id": "ENSP00000582182.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 885,
"cds_start": 944,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912123.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912127.1",
"protein_id": "ENSP00000582186.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 885,
"cds_start": 944,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912127.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912122.1",
"protein_id": "ENSP00000582181.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 867,
"cds_start": 944,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912122.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394515.1",
"protein_id": "NP_001381444.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 859,
"cds_start": 944,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394515.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912118.1",
"protein_id": "ENSP00000582177.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 857,
"cds_start": 944,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912118.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.Lys247Arg",
"transcript": "ENST00000912125.1",
"protein_id": "ENSP00000582184.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 843,
"cds_start": 740,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912125.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912126.1",
"protein_id": "ENSP00000582185.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 841,
"cds_start": 944,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912126.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "NM_001394516.1",
"protein_id": "NP_001381445.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 835,
"cds_start": 944,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394516.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000872600.1",
"protein_id": "ENSP00000542659.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 835,
"cds_start": 944,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872600.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg",
"transcript": "ENST00000912120.1",
"protein_id": "ENSP00000582179.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 835,
"cds_start": 944,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912120.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Lys430Arg",
"transcript": "XM_047444016.1",
"protein_id": "XP_047299972.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 1026,
"cds_start": 1289,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444016.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "n.328A>G",
"hgvs_p": null,
"transcript": "ENST00000480989.1",
"protein_id": null,
"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": 604,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.104+606T>C",
"hgvs_p": null,
"transcript": "ENST00000587586.5",
"protein_id": null,
"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": 529,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000587586.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.104+606T>C",
"hgvs_p": null,
"transcript": "ENST00000588707.5",
"protein_id": null,
"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": 607,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588707.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.104+606T>C",
"hgvs_p": null,
"transcript": "ENST00000589232.5",
"protein_id": null,
"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": 254,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589232.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.104+606T>C",
"hgvs_p": null,
"transcript": "ENST00000589853.3",
"protein_id": null,
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589853.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.483+606T>C",
"hgvs_p": null,
"transcript": "ENST00000590383.4",
"protein_id": null,
"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": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000590383.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.104+606T>C",
"hgvs_p": null,
"transcript": "ENST00000625728.1",
"protein_id": null,
"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": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000625728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.54+606T>C",
"hgvs_p": null,
"transcript": "ENST00000626256.1",
"protein_id": null,
"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": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000626256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.351+1462T>C",
"hgvs_p": null,
"transcript": "ENST00000732733.1",
"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": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732733.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.*107T>C",
"hgvs_p": null,
"transcript": "ENST00000416453.8",
"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": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000416453.8"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.*132T>C",
"hgvs_p": null,
"transcript": "ENST00000585645.7",
"protein_id": null,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585645.7"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.*148T>C",
"hgvs_p": null,
"transcript": "ENST00000590754.5",
"protein_id": null,
"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": 478,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000590754.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.*129T>C",
"hgvs_p": null,
"transcript": "ENST00000732734.1",
"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": 625,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000732734.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS1",
"gene_hgnc_id": 40269,
"hgvs_c": "n.*129T>C",
"hgvs_p": null,
"transcript": "NR_038427.1",
"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": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038427.1"
}
],
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"dbsnp": null,
"frequency_reference_population": 6.9821385e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.98214e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26512420177459717,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.299,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.878,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001521.4",
"gene_symbol": "GTF3C2",
"hgnc_id": 4665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Lys315Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000732733.1",
"gene_symbol": "GTF3C2-AS1",
"hgnc_id": 40269,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.351+1462T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}