← 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: 11-76546171-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76546171&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76546171,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000695367.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3693T>A",
"hgvs_p": "p.Thr1231Thr",
"transcript": "NM_001300942.2",
"protein_id": "NP_001287871.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3693,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 7049,
"mane_select": "ENST00000695367.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3693T>A",
"hgvs_p": "p.Thr1231Thr",
"transcript": "ENST00000695367.1",
"protein_id": "ENSP00000511840.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3693,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 7049,
"mane_select": "NM_001300942.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3693T>A",
"hgvs_p": "p.Thr1231Thr",
"transcript": "ENST00000524767.5",
"protein_id": "ENSP00000433205.1",
"transcript_support_level": 1,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3693,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3732,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3651T>A",
"hgvs_p": "p.Thr1217Thr",
"transcript": "ENST00000525038.5",
"protein_id": "ENSP00000436968.1",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3651T>A",
"hgvs_p": "p.Thr1217Thr",
"transcript": "ENST00000525919.5",
"protein_id": "ENSP00000432010.1",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3648T>A",
"hgvs_p": "p.Thr1216Thr",
"transcript": "ENST00000529032.5",
"protein_id": "ENSP00000432327.1",
"transcript_support_level": 1,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3375T>A",
"hgvs_p": "p.Thr1125Thr",
"transcript": "ENST00000533248.5",
"protein_id": "ENSP00000433634.1",
"transcript_support_level": 1,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 3798,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.693+1349T>A",
"hgvs_p": null,
"transcript": "ENST00000532719.1",
"protein_id": "ENSP00000436528.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3651T>A",
"hgvs_p": "p.Thr1217Thr",
"transcript": "NM_001300943.2",
"protein_id": "NP_001287872.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 7007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3651T>A",
"hgvs_p": "p.Thr1217Thr",
"transcript": "NM_001300944.2",
"protein_id": "NP_001287873.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 7007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3648T>A",
"hgvs_p": "p.Thr1216Thr",
"transcript": "NM_020193.5",
"protein_id": "NP_064578.2",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3798,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3648T>A",
"hgvs_p": "p.Thr1216Thr",
"transcript": "ENST00000334736.7",
"protein_id": "ENSP00000334130.3",
"transcript_support_level": 5,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3791,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3354T>A",
"hgvs_p": "p.Thr1118Thr",
"transcript": "ENST00000524490.5",
"protein_id": "ENSP00000431166.1",
"transcript_support_level": 2,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.222T>A",
"hgvs_p": "p.Thr74Thr",
"transcript": "ENST00000531793.1",
"protein_id": "ENSP00000436307.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 157,
"cds_start": 222,
"cds_end": null,
"cds_length": 476,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3690T>A",
"hgvs_p": "p.Thr1230Thr",
"transcript": "XM_047427267.1",
"protein_id": "XP_047283223.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3690,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 3840,
"cdna_end": null,
"cdna_length": 7046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3648T>A",
"hgvs_p": "p.Thr1216Thr",
"transcript": "XM_047427268.1",
"protein_id": "XP_047283224.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3798,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3693T>A",
"hgvs_p": "p.Thr1231Thr",
"transcript": "XM_047427269.1",
"protein_id": "XP_047283225.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 7122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3609T>A",
"hgvs_p": "p.Thr1203Thr",
"transcript": "XM_006718638.5",
"protein_id": "XP_006718701.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 6965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3606T>A",
"hgvs_p": "p.Thr1202Thr",
"transcript": "XM_047427271.1",
"protein_id": "XP_047283227.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3606,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 3756,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3651T>A",
"hgvs_p": "p.Thr1217Thr",
"transcript": "XM_047427272.1",
"protein_id": "XP_047283228.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3651T>A",
"hgvs_p": "p.Thr1217Thr",
"transcript": "XM_047427273.1",
"protein_id": "XP_047283229.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3801,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3648T>A",
"hgvs_p": "p.Thr1216Thr",
"transcript": "XM_047427274.1",
"protein_id": "XP_047283230.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3798,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3609T>A",
"hgvs_p": "p.Thr1203Thr",
"transcript": "XM_047427275.1",
"protein_id": "XP_047283231.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3609,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3540T>A",
"hgvs_p": "p.Thr1180Thr",
"transcript": "XM_047427276.1",
"protein_id": "XP_047283232.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3540,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3528T>A",
"hgvs_p": "p.Thr1176Thr",
"transcript": "XM_047427277.1",
"protein_id": "XP_047283233.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3528,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3525T>A",
"hgvs_p": "p.Thr1175Thr",
"transcript": "XM_047427278.1",
"protein_id": "XP_047283234.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3525,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 3675,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3498T>A",
"hgvs_p": "p.Thr1166Thr",
"transcript": "XM_005274112.6",
"protein_id": "XP_005274169.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3498,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 6854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3498T>A",
"hgvs_p": "p.Thr1166Thr",
"transcript": "XM_047427279.1",
"protein_id": "XP_047283235.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3498,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 6854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3540T>A",
"hgvs_p": "p.Thr1180Thr",
"transcript": "XM_047427280.1",
"protein_id": "XP_047283236.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3540,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3486T>A",
"hgvs_p": "p.Thr1162Thr",
"transcript": "XM_047427281.1",
"protein_id": "XP_047283237.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3486,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3486T>A",
"hgvs_p": "p.Thr1162Thr",
"transcript": "XM_047427282.1",
"protein_id": "XP_047283238.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3486,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3483T>A",
"hgvs_p": "p.Thr1161Thr",
"transcript": "XM_047427283.1",
"protein_id": "XP_047283239.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3483,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3633,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3483T>A",
"hgvs_p": "p.Thr1161Thr",
"transcript": "XM_047427284.1",
"protein_id": "XP_047283240.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3483,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3633,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3456T>A",
"hgvs_p": "p.Thr1152Thr",
"transcript": "XM_047427285.1",
"protein_id": "XP_047283241.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3456,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3498T>A",
"hgvs_p": "p.Thr1166Thr",
"transcript": "XM_047427286.1",
"protein_id": "XP_047283242.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3498,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3444T>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "XM_047427287.1",
"protein_id": "XP_047283243.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3444,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3441T>A",
"hgvs_p": "p.Thr1147Thr",
"transcript": "XM_047427288.1",
"protein_id": "XP_047283244.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3486T>A",
"hgvs_p": "p.Thr1162Thr",
"transcript": "XM_047427289.1",
"protein_id": "XP_047283245.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3486,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3456T>A",
"hgvs_p": "p.Thr1152Thr",
"transcript": "XM_047427290.1",
"protein_id": "XP_047283246.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3456,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3375T>A",
"hgvs_p": "p.Thr1125Thr",
"transcript": "XM_047427291.1",
"protein_id": "XP_047283247.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3525,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3333T>A",
"hgvs_p": "p.Thr1111Thr",
"transcript": "XM_047427292.1",
"protein_id": "XP_047283248.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3333,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3333T>A",
"hgvs_p": "p.Thr1111Thr",
"transcript": "XM_047427293.1",
"protein_id": "XP_047283249.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3333,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3330T>A",
"hgvs_p": "p.Thr1110Thr",
"transcript": "XM_006718637.5",
"protein_id": "XP_006718700.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3330,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3327T>A",
"hgvs_p": "p.Thr1109Thr",
"transcript": "XM_047427294.1",
"protein_id": "XP_047283250.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3327,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3477,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3291T>A",
"hgvs_p": "p.Thr1097Thr",
"transcript": "XM_047427295.1",
"protein_id": "XP_047283251.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 6647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3288T>A",
"hgvs_p": "p.Thr1096Thr",
"transcript": "XM_047427296.1",
"protein_id": "XP_047283252.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3288,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3438,
"cdna_end": null,
"cdna_length": 6644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3330T>A",
"hgvs_p": "p.Thr1110Thr",
"transcript": "XM_047427297.1",
"protein_id": "XP_047283253.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3330,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 6759,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3318+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427298.1",
"protein_id": "XP_047283254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1170,
"cds_start": -4,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6548,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3276+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427299.1",
"protein_id": "XP_047283255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": -4,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6506,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3276+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427300.1",
"protein_id": "XP_047283256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": -4,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6506,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3273+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427301.1",
"protein_id": "XP_047283257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": -4,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6503,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3234+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427302.1",
"protein_id": "XP_047283258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1142,
"cds_start": -4,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6464,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3231+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427303.1",
"protein_id": "XP_047283259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"cds_start": -4,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6461,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3165+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427304.1",
"protein_id": "XP_047283260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1119,
"cds_start": -4,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6395,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3123+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427305.1",
"protein_id": "XP_047283261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": -4,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6353,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3123+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427306.1",
"protein_id": "XP_047283262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": -4,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6353,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.3111+1349T>A",
"hgvs_p": null,
"transcript": "XM_047427307.1",
"protein_id": "XP_047283263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1101,
"cds_start": -4,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6341,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.2755-3781T>A",
"hgvs_p": null,
"transcript": "XM_047427310.1",
"protein_id": "XP_047283266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"dbsnp": "rs3753051",
"frequency_reference_population": 6.840516e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84052e-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": 0.37599998712539673,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.376,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.884,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP7",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695367.1",
"gene_symbol": "EMSY",
"hgnc_id": 18071,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3693T>A",
"hgvs_p": "p.Thr1231Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}