← 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: 14-93519101-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=93519101&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 93519101,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000695012.1",
"consequences": [
{
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "NM_001395159.1",
"protein_id": "NP_001382088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2707,
"cds_start": -4,
"cds_end": null,
"cds_length": 8124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9187,
"mane_select": "ENST00000695012.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000695012.1",
"protein_id": "ENSP00000511643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2707,
"cds_start": -4,
"cds_end": null,
"cds_length": 8124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9187,
"mane_select": "NM_001395159.1",
"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": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.-1256A>T",
"hgvs_p": null,
"transcript": "XM_017021518.2",
"protein_id": "XP_016877007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2386,
"cds_start": -4,
"cds_end": null,
"cds_length": 7161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11012,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "NM_001346218.2",
"protein_id": "NP_001333147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2685,
"cds_start": -4,
"cds_end": null,
"cds_length": 8058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9121,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000695013.1",
"protein_id": "ENSP00000511644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2685,
"cds_start": -4,
"cds_end": null,
"cds_length": 8058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8459,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000553484.5",
"protein_id": "ENSP00000451360.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2657,
"cds_start": -4,
"cds_end": null,
"cds_length": 7974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9100,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000393151.6",
"protein_id": "ENSP00000376858.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2635,
"cds_start": -4,
"cds_end": null,
"cds_length": 7908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7908,
"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": 49,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000555664.5",
"protein_id": "ENSP00000450868.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2596,
"cds_start": -4,
"cds_end": null,
"cds_length": 7791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8484,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.368-4877A>T",
"hgvs_p": null,
"transcript": "NM_020818.5",
"protein_id": "NP_065869.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": -4,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9041,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.368-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000256339.8",
"protein_id": "ENSP00000256339.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": -4,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8400,
"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": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.368-4877A>T",
"hgvs_p": null,
"transcript": "ENST00000621021.1",
"protein_id": "ENSP00000480937.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2458,
"cds_start": -4,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7377,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537018.3",
"protein_id": "XP_011535320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2752,
"cds_start": -4,
"cds_end": null,
"cds_length": 8259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12770,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537020.3",
"protein_id": "XP_011535322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2730,
"cds_start": -4,
"cds_end": null,
"cds_length": 8193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12704,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021506.2",
"protein_id": "XP_016876995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2718,
"cds_start": -4,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12668,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021507.2",
"protein_id": "XP_016876996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2713,
"cds_start": -4,
"cds_end": null,
"cds_length": 8142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12653,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021508.2",
"protein_id": "XP_016876997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2702,
"cds_start": -4,
"cds_end": null,
"cds_length": 8109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12620,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537022.3",
"protein_id": "XP_011535324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2700,
"cds_start": -4,
"cds_end": null,
"cds_length": 8103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12614,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.875-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537023.3",
"protein_id": "XP_011535325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2699,
"cds_start": -4,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12611,
"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": 49,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021509.2",
"protein_id": "XP_016876998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2699,
"cds_start": -4,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12611,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_024449667.2",
"protein_id": "XP_024305435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2696,
"cds_start": -4,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12602,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021510.2",
"protein_id": "XP_016876999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2691,
"cds_start": -4,
"cds_end": null,
"cds_length": 8076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12587,
"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": 50,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.848-4877A>T",
"hgvs_p": null,
"transcript": "XM_047431622.1",
"protein_id": "XP_047287578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2690,
"cds_start": -4,
"cds_end": null,
"cds_length": 8073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12584,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021513.2",
"protein_id": "XP_016877002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2680,
"cds_start": -4,
"cds_end": null,
"cds_length": 8043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12554,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537024.3",
"protein_id": "XP_011535326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2678,
"cds_start": -4,
"cds_end": null,
"cds_length": 8037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12548,
"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": 51,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.875-4877A>T",
"hgvs_p": null,
"transcript": "XM_047431623.1",
"protein_id": "XP_047287579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2677,
"cds_start": -4,
"cds_end": null,
"cds_length": 8034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12545,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null,
"transcript": "XM_047431624.1",
"protein_id": "XP_047287580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2673,
"cds_start": -4,
"cds_end": null,
"cds_length": 8022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9085,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537025.3",
"protein_id": "XP_011535327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2669,
"cds_start": -4,
"cds_end": null,
"cds_length": 8010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11602,
"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": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021514.2",
"protein_id": "XP_016877003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2663,
"cds_start": -4,
"cds_end": null,
"cds_length": 7992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12503,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.740-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021515.2",
"protein_id": "XP_016877004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2654,
"cds_start": -4,
"cds_end": null,
"cds_length": 7965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9028,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.875-4877A>T",
"hgvs_p": null,
"transcript": "XM_047431625.1",
"protein_id": "XP_047287581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2647,
"cds_start": -4,
"cds_end": null,
"cds_length": 7944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12455,
"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": 50,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.713-4877A>T",
"hgvs_p": null,
"transcript": "XM_024449668.2",
"protein_id": "XP_024305436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2645,
"cds_start": -4,
"cds_end": null,
"cds_length": 7938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9001,
"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": 49,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1034-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021516.2",
"protein_id": "XP_016877005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2641,
"cds_start": -4,
"cds_end": null,
"cds_length": 7926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12437,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.698-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537026.3",
"protein_id": "XP_011535328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2640,
"cds_start": -4,
"cds_end": null,
"cds_length": 7923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9213,
"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": 52,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.698-4877A>T",
"hgvs_p": null,
"transcript": "XM_011537027.3",
"protein_id": "XP_011535329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2640,
"cds_start": -4,
"cds_end": null,
"cds_length": 7923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9416,
"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": 48,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.875-4877A>T",
"hgvs_p": null,
"transcript": "XM_047431626.1",
"protein_id": "XP_047287582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2624,
"cds_start": -4,
"cds_end": null,
"cds_length": 7875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12386,
"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": 49,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.740-4877A>T",
"hgvs_p": null,
"transcript": "XM_047431627.1",
"protein_id": "XP_047287583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2601,
"cds_start": -4,
"cds_end": null,
"cds_length": 7806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8869,
"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": 49,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.875-4877A>T",
"hgvs_p": null,
"transcript": "XM_017021517.2",
"protein_id": "XP_016877006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2588,
"cds_start": -4,
"cds_end": null,
"cds_length": 7767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"dbsnp": "rs12882384",
"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": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.649,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695012.1",
"gene_symbol": "UNC79",
"hgnc_id": 19966,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.899-4877A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}