← 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: 10-77819464-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77819464&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 77819464,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000372391.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3528C>T",
"hgvs_p": "p.Gly1176Gly",
"transcript": "NM_004747.4",
"protein_id": "NP_004738.3",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1919,
"cds_start": 3528,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "ENST00000372391.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3528C>T",
"hgvs_p": "p.Gly1176Gly",
"transcript": "ENST00000372391.7",
"protein_id": "ENSP00000361467.2",
"transcript_support_level": 1,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1919,
"cds_start": 3528,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "NM_004747.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.411C>T",
"hgvs_p": "p.Gly137Gly",
"transcript": "ENST00000424842.5",
"protein_id": "ENSP00000394797.1",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 880,
"cds_start": 411,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.583C>T",
"hgvs_p": null,
"transcript": "ENST00000459739.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.156C>T",
"hgvs_p": null,
"transcript": "ENST00000463362.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3516C>T",
"hgvs_p": "p.Gly1172Gly",
"transcript": "XM_005270276.5",
"protein_id": "XP_005270333.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1915,
"cds_start": 3516,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 3751,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3351C>T",
"hgvs_p": "p.Gly1117Gly",
"transcript": "XM_011540341.4",
"protein_id": "XP_011538643.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1860,
"cds_start": 3351,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Gly1086Gly",
"transcript": "XM_011540342.2",
"protein_id": "XP_011538644.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1829,
"cds_start": 3258,
"cds_end": null,
"cds_length": 5490,
"cdna_start": 3297,
"cdna_end": null,
"cdna_length": 7178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3246C>T",
"hgvs_p": "p.Gly1082Gly",
"transcript": "XM_017016913.2",
"protein_id": "XP_016872402.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1825,
"cds_start": 3246,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3198C>T",
"hgvs_p": "p.Gly1066Gly",
"transcript": "XM_017016914.2",
"protein_id": "XP_016872403.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1809,
"cds_start": 3198,
"cds_end": null,
"cds_length": 5430,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3198C>T",
"hgvs_p": "p.Gly1066Gly",
"transcript": "XM_047425998.1",
"protein_id": "XP_047281954.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1809,
"cds_start": 3198,
"cds_end": null,
"cds_length": 5430,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3192C>T",
"hgvs_p": "p.Gly1064Gly",
"transcript": "XM_011540344.3",
"protein_id": "XP_011538646.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1807,
"cds_start": 3192,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3063C>T",
"hgvs_p": "p.Gly1021Gly",
"transcript": "XM_011540345.2",
"protein_id": "XP_011538647.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1764,
"cds_start": 3063,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3063C>T",
"hgvs_p": "p.Gly1021Gly",
"transcript": "XM_047426000.1",
"protein_id": "XP_047281956.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1764,
"cds_start": 3063,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3051C>T",
"hgvs_p": "p.Gly1017Gly",
"transcript": "XM_047426001.1",
"protein_id": "XP_047281957.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1760,
"cds_start": 3051,
"cds_end": null,
"cds_length": 5283,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3528C>T",
"hgvs_p": "p.Gly1176Gly",
"transcript": "XM_011540346.3",
"protein_id": "XP_011538648.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1680,
"cds_start": 3528,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Gly870Gly",
"transcript": "XM_011540347.3",
"protein_id": "XP_011538649.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2610,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 6658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Gly870Gly",
"transcript": "XM_017016915.2",
"protein_id": "XP_016872404.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2610,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.2508C>T",
"hgvs_p": "p.Gly836Gly",
"transcript": "XM_006718056.4",
"protein_id": "XP_006718119.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1579,
"cds_start": 2508,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 2743,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3528C>T",
"hgvs_p": "p.Gly1176Gly",
"transcript": "XM_047426002.1",
"protein_id": "XP_047281958.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3528,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.2073C>T",
"hgvs_p": "p.Gly691Gly",
"transcript": "XM_024448250.2",
"protein_id": "XP_024304018.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 1434,
"cds_start": 2073,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.3528C>T",
"hgvs_p": "p.Gly1176Gly",
"transcript": "XM_006718057.4",
"protein_id": "XP_006718120.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3528,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.*2885C>T",
"hgvs_p": null,
"transcript": "ENST00000468332.6",
"protein_id": "ENSP00000473298.1",
"transcript_support_level": 2,
"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": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.3365C>T",
"hgvs_p": null,
"transcript": "ENST00000475613.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 7246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.558C>T",
"hgvs_p": null,
"transcript": "ENST00000476354.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.*2885C>T",
"hgvs_p": null,
"transcript": "ENST00000468332.6",
"protein_id": "ENSP00000473298.1",
"transcript_support_level": 2,
"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": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*141C>T",
"hgvs_p": null,
"transcript": "XM_047426003.1",
"protein_id": "XP_047281959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"dbsnp": "rs1248634",
"frequency_reference_population": 0.281894,
"hom_count_reference_population": 66437,
"allele_count_reference_population": 454421,
"gnomad_exomes_af": 0.285469,
"gnomad_genomes_af": 0.247563,
"gnomad_exomes_ac": 416779,
"gnomad_genomes_ac": 37642,
"gnomad_exomes_homalt": 61117,
"gnomad_genomes_homalt": 5320,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.00038672651862725616,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_ADA",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.319,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000386726530778763,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372391.7",
"gene_symbol": "DLG5",
"hgnc_id": 2904,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3528C>T",
"hgvs_p": "p.Gly1176Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}