← 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: 16-27226773-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27226773&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27226773,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145080.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "NM_145080.4",
"protein_id": "NP_659547.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": "ENST00000361439.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145080.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000361439.9",
"protein_id": "ENSP00000355077.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": "NM_145080.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361439.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Thr227Ala",
"transcript": "ENST00000869101.1",
"protein_id": "ENSP00000539160.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 310,
"cds_start": 679,
"cds_end": null,
"cds_length": 933,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869101.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Thr204Ala",
"transcript": "ENST00000869102.1",
"protein_id": "ENSP00000539161.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 287,
"cds_start": 610,
"cds_end": null,
"cds_length": 864,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869102.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000961550.1",
"protein_id": "ENSP00000631609.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 287,
"cds_start": 547,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961550.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000869099.1",
"protein_id": "ENSP00000539158.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869099.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000869103.1",
"protein_id": "ENSP00000539162.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869103.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000869104.1",
"protein_id": "ENSP00000539163.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869104.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000869105.1",
"protein_id": "ENSP00000539164.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869105.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000933466.1",
"protein_id": "ENSP00000603525.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933466.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000961549.1",
"protein_id": "ENSP00000631608.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961549.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000869097.1",
"protein_id": "ENSP00000539156.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 265,
"cds_start": 547,
"cds_end": null,
"cds_length": 798,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869097.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Thr182Ala",
"transcript": "ENST00000961548.1",
"protein_id": "ENSP00000631607.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 265,
"cds_start": 544,
"cds_end": null,
"cds_length": 798,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961548.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000869100.1",
"protein_id": "ENSP00000539159.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 253,
"cds_start": 508,
"cds_end": null,
"cds_length": 762,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869100.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.469A>G",
"hgvs_p": "p.Thr157Ala",
"transcript": "ENST00000933464.1",
"protein_id": "ENSP00000603523.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 240,
"cds_start": 469,
"cds_end": null,
"cds_length": 723,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933464.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Thr182Ala",
"transcript": "ENST00000563273.5",
"protein_id": "ENSP00000458859.1",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 192,
"cds_start": 544,
"cds_end": null,
"cds_length": 580,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563273.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asp67Gly",
"transcript": "ENST00000933465.1",
"protein_id": "ENSP00000603524.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 110,
"cds_start": 200,
"cds_end": null,
"cds_length": 333,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933465.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Thr48Ala",
"transcript": "ENST00000562039.1",
"protein_id": "ENSP00000457893.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 78,
"cds_start": 142,
"cds_end": null,
"cds_length": 237,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562039.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "XM_006721023.5",
"protein_id": "XP_006721086.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 266,
"cds_start": 547,
"cds_end": null,
"cds_length": 801,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721023.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Thr87Ala",
"transcript": "XM_047433772.1",
"protein_id": "XP_047289728.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 170,
"cds_start": 259,
"cds_end": null,
"cds_length": 513,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433772.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Thr87Ala",
"transcript": "XM_047433773.1",
"protein_id": "XP_047289729.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 170,
"cds_start": 259,
"cds_end": null,
"cds_length": 513,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.484-927A>G",
"hgvs_p": null,
"transcript": "ENST00000869098.1",
"protein_id": "ENSP00000539157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "c.137-1537A>G",
"hgvs_p": null,
"transcript": "ENST00000933463.1",
"protein_id": "ENSP00000603522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933463.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "n.594A>G",
"hgvs_p": null,
"transcript": "ENST00000565070.5",
"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": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565070.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "n.313A>G",
"hgvs_p": null,
"transcript": "ENST00000565384.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000565384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "n.*557A>G",
"hgvs_p": null,
"transcript": "ENST00000566087.5",
"protein_id": "ENSP00000455237.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "n.*871A>G",
"hgvs_p": null,
"transcript": "ENST00000569236.5",
"protein_id": "ENSP00000456053.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569236.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "n.*557A>G",
"hgvs_p": null,
"transcript": "ENST00000566087.5",
"protein_id": "ENSP00000455237.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"hgvs_c": "n.*871A>G",
"hgvs_p": null,
"transcript": "ENST00000569236.5",
"protein_id": "ENSP00000456053.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569236.5"
}
],
"gene_symbol": "NSMCE1",
"gene_hgnc_id": 29897,
"dbsnp": "rs2083700612",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11032101511955261,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.08,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.766,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145080.4",
"gene_symbol": "NSMCE1",
"hgnc_id": 29897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala"
}
],
"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
}