← 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: 15-72756358-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72756358&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72756358,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365225.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "NM_001365225.1",
"protein_id": "NP_001352154.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 497,
"cds_start": 733,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365225.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "ENST00000456471.3",
"protein_id": "ENSP00000397694.3",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 497,
"cds_start": 733,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365225.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456471.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.2253G>A",
"hgvs_p": null,
"transcript": "ENST00000562621.1",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*709G>A",
"hgvs_p": null,
"transcript": "ENST00000567941.5",
"protein_id": "ENSP00000458102.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*709G>A",
"hgvs_p": null,
"transcript": "ENST00000567941.5",
"protein_id": "ENSP00000458102.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567941.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Met",
"transcript": "ENST00000957653.1",
"protein_id": "ENSP00000627712.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 511,
"cds_start": 775,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957653.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"transcript": "ENST00000853936.1",
"protein_id": "ENSP00000523995.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 501,
"cds_start": 745,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853936.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"transcript": "ENST00000853934.1",
"protein_id": "ENSP00000523993.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 500,
"cds_start": 745,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853934.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "NM_031284.5",
"protein_id": "NP_112574.3",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 496,
"cds_start": 733,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031284.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "ENST00000311669.12",
"protein_id": "ENSP00000312250.8",
"transcript_support_level": 2,
"aa_start": 245,
"aa_end": null,
"aa_length": 496,
"cds_start": 733,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311669.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Val224Met",
"transcript": "ENST00000853929.1",
"protein_id": "ENSP00000523988.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 476,
"cds_start": 670,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853929.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "ENST00000853935.1",
"protein_id": "ENSP00000523994.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 476,
"cds_start": 733,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853935.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Val224Met",
"transcript": "ENST00000853931.1",
"protein_id": "ENSP00000523990.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 475,
"cds_start": 670,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853931.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "ENST00000957652.1",
"protein_id": "ENSP00000627711.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 464,
"cds_start": 733,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957652.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "ENST00000853930.1",
"protein_id": "ENSP00000523989.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 463,
"cds_start": 733,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853930.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Met",
"transcript": "ENST00000853937.1",
"protein_id": "ENSP00000523996.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 463,
"cds_start": 631,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853937.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Met",
"transcript": "NM_001365226.1",
"protein_id": "NP_001352155.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 375,
"cds_start": 367,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365226.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Met",
"transcript": "NM_001365223.1",
"protein_id": "NP_001352152.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 374,
"cds_start": 367,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365223.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "NM_001365224.1",
"protein_id": "NP_001352153.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 258,
"cds_start": 16,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365224.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "NM_001365229.1",
"protein_id": "NP_001352158.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 258,
"cds_start": 16,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365229.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Met",
"transcript": "ENST00000565814.1",
"protein_id": "ENSP00000457447.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 153,
"cds_start": 367,
"cds_end": null,
"cds_length": 464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565814.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Met",
"transcript": "XM_047433164.1",
"protein_id": "XP_047289120.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 375,
"cds_start": 367,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433164.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met",
"transcript": "XM_011522104.4",
"protein_id": "XP_011520406.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 321,
"cds_start": 733,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522104.4"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-704G>A",
"hgvs_p": null,
"transcript": "ENST00000931831.1",
"protein_id": "ENSP00000601890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931831.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-704G>A",
"hgvs_p": null,
"transcript": "ENST00000931832.1",
"protein_id": "ENSP00000601891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931832.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-3463G>A",
"hgvs_p": null,
"transcript": "NM_001365227.1",
"protein_id": "NP_001352156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365227.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-3463G>A",
"hgvs_p": null,
"transcript": "ENST00000853933.1",
"protein_id": "ENSP00000523992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853933.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-3466G>A",
"hgvs_p": null,
"transcript": "NM_001365228.1",
"protein_id": "NP_001352157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365228.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-3466G>A",
"hgvs_p": null,
"transcript": "ENST00000853928.1",
"protein_id": "ENSP00000523987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853928.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.523-3526G>A",
"hgvs_p": null,
"transcript": "ENST00000853932.1",
"protein_id": "ENSP00000523991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853932.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.575-3463G>A",
"hgvs_p": null,
"transcript": "ENST00000563907.5",
"protein_id": "ENSP00000456387.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563907.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.226-704G>A",
"hgvs_p": null,
"transcript": "XM_017022664.3",
"protein_id": "XP_016878153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022664.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*102G>A",
"hgvs_p": null,
"transcript": "ENST00000569534.5",
"protein_id": "ENSP00000454707.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*102G>A",
"hgvs_p": null,
"transcript": "ENST00000569534.5",
"protein_id": "ENSP00000454707.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.507-704G>A",
"hgvs_p": null,
"transcript": "ENST00000567733.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*331-704G>A",
"hgvs_p": null,
"transcript": "ENST00000569517.5",
"protein_id": "ENSP00000454304.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.-93G>A",
"hgvs_p": null,
"transcript": "ENST00000569693.5",
"protein_id": "ENSP00000457572.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569693.5"
}
],
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"dbsnp": "rs1166879192",
"frequency_reference_population": 0.000004336723,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410426,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3004782497882843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.1428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.013,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365225.1",
"gene_symbol": "ADPGK",
"hgnc_id": 25250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Met"
}
],
"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
}