← 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: 14-63853088-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=63853088&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 63853088,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_182914.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "NM_182914.3",
"protein_id": "NP_878918.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6907,
"cds_start": -4,
"cds_end": null,
"cds_length": 20724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "ENST00000555002.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000555002.6",
"protein_id": "ENSP00000450831.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 6907,
"cds_start": -4,
"cds_end": null,
"cds_length": 20724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "NM_182914.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000344113.8",
"protein_id": "ENSP00000341781.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 6885,
"cds_start": -4,
"cds_end": null,
"cds_length": 20658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000341472.9",
"protein_id": "ENSP00000344528.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "ENST00000358025.7",
"protein_id": "ENSP00000350719.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 6907,
"cds_start": -4,
"cds_end": null,
"cds_length": 20724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "NM_015180.6",
"protein_id": "NP_055995.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6885,
"cds_start": -4,
"cds_end": null,
"cds_length": 20658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536574.2",
"protein_id": "XP_011534876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-111G>A",
"hgvs_p": null,
"transcript": "XM_047431149.1",
"protein_id": "XP_047287105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536578.2",
"protein_id": "XP_011534880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6935,
"cds_start": -4,
"cds_end": null,
"cds_length": 20808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_005267454.2",
"protein_id": "XP_005267511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6922,
"cds_start": -4,
"cds_end": null,
"cds_length": 20769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536579.2",
"protein_id": "XP_011534881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6922,
"cds_start": -4,
"cds_end": null,
"cds_length": 20769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_005267456.2",
"protein_id": "XP_005267513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6921,
"cds_start": -4,
"cds_end": null,
"cds_length": 20766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536580.3",
"protein_id": "XP_011534882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6921,
"cds_start": -4,
"cds_end": null,
"cds_length": 20766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536581.2",
"protein_id": "XP_011534883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6913,
"cds_start": -4,
"cds_end": null,
"cds_length": 20742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431153.1",
"protein_id": "XP_047287109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6912,
"cds_start": -4,
"cds_end": null,
"cds_length": 20739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_005267457.2",
"protein_id": "XP_005267514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6908,
"cds_start": -4,
"cds_end": null,
"cds_length": 20727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_005267458.2",
"protein_id": "XP_005267515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6899,
"cds_start": -4,
"cds_end": null,
"cds_length": 20700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431154.1",
"protein_id": "XP_047287110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6899,
"cds_start": -4,
"cds_end": null,
"cds_length": 20700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431155.1",
"protein_id": "XP_047287111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6898,
"cds_start": -4,
"cds_end": null,
"cds_length": 20697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431156.1",
"protein_id": "XP_047287112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6898,
"cds_start": -4,
"cds_end": null,
"cds_length": 20697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536582.2",
"protein_id": "XP_011534884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6897,
"cds_start": -4,
"cds_end": null,
"cds_length": 20694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_005267459.2",
"protein_id": "XP_005267516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6884,
"cds_start": -4,
"cds_end": null,
"cds_length": 20655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431157.1",
"protein_id": "XP_047287113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6868,
"cds_start": -4,
"cds_end": null,
"cds_length": 20607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 114,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431158.1",
"protein_id": "XP_047287114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6846,
"cds_start": -4,
"cds_end": null,
"cds_length": 20541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_047431159.1",
"protein_id": "XP_047287115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4788,
"cds_start": -4,
"cds_end": null,
"cds_length": 14367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-107G>A",
"hgvs_p": null,
"transcript": "XM_011536584.3",
"protein_id": "XP_011534886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3831,
"cds_start": -4,
"cds_end": null,
"cds_length": 11496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-52+335G>A",
"hgvs_p": null,
"transcript": "ENST00000674003.1",
"protein_id": "ENSP00000501132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 944,
"cds_start": -4,
"cds_end": null,
"cds_length": 2837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-52+335G>A",
"hgvs_p": null,
"transcript": "XM_011536576.3",
"protein_id": "XP_011534878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-52+8G>A",
"hgvs_p": null,
"transcript": "XM_011536577.3",
"protein_id": "XP_011534879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-52+335G>A",
"hgvs_p": null,
"transcript": "XM_047431152.1",
"protein_id": "XP_047287108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000306681",
"gene_hgnc_id": null,
"hgvs_c": "n.-190C>T",
"hgvs_p": null,
"transcript": "ENST00000820219.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-298G>A",
"hgvs_p": null,
"transcript": "XM_047431150.1",
"protein_id": "XP_047287106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.-284G>A",
"hgvs_p": null,
"transcript": "XM_047431151.1",
"protein_id": "XP_047287107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 6936,
"cds_start": -4,
"cds_end": null,
"cds_length": 20811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"dbsnp": "rs886050577",
"frequency_reference_population": 0.000013170372,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131704,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.168,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_182914.3",
"gene_symbol": "SYNE2",
"hgnc_id": 17084,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.-107G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000820219.1",
"gene_symbol": "ENSG00000306681",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-190C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant,Emery-Dreifuss muscular dystrophy 5",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}