← 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: 15-82659636-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82659636&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82659636,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001278512.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3230A>G",
"hgvs_p": "p.Gln1077Arg",
"transcript": "NM_001278512.2",
"protein_id": "NP_001265441.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3230,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000535359.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278512.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3230A>G",
"hgvs_p": "p.Gln1077Arg",
"transcript": "ENST00000535359.6",
"protein_id": "ENSP00000440984.1",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3230,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001278512.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535359.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3191A>G",
"hgvs_p": "p.Gln1064Arg",
"transcript": "ENST00000261722.8",
"protein_id": "ENSP00000261722.4",
"transcript_support_level": 1,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261722.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Gln1026Arg",
"transcript": "ENST00000535348.5",
"protein_id": "ENSP00000438721.1",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535348.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3319A>G",
"hgvs_p": null,
"transcript": "ENST00000537735.2",
"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": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000537735.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPEB1-AS1",
"gene_hgnc_id": 27523,
"hgvs_c": "n.1328+9490T>C",
"hgvs_p": null,
"transcript": "ENST00000560650.1",
"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": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560650.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3302A>G",
"hgvs_p": "p.Gln1101Arg",
"transcript": "ENST00000642989.2",
"protein_id": "ENSP00000493485.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642989.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3173A>G",
"hgvs_p": "p.Gln1058Arg",
"transcript": "NM_004644.5",
"protein_id": "NP_004635.2",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004644.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3173A>G",
"hgvs_p": "p.Gln1058Arg",
"transcript": "ENST00000668990.2",
"protein_id": "ENSP00000499235.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668990.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Gln1026Arg",
"transcript": "NM_001278511.2",
"protein_id": "NP_001265440.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278511.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3002A>G",
"hgvs_p": "p.Gln1001Arg",
"transcript": "ENST00000669930.1",
"protein_id": "ENSP00000499671.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000669930.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.Gln694Arg",
"transcript": "ENST00000660624.1",
"protein_id": "ENSP00000499379.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 718,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660624.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Gln121Arg",
"transcript": "NM_001348441.2",
"protein_id": "NP_001335370.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 145,
"cds_start": 362,
"cds_end": null,
"cds_length": 438,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348441.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.3204A>G",
"hgvs_p": "p.Pro1068Pro",
"transcript": "ENST00000652847.1",
"protein_id": "ENSP00000499785.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3204,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "c.*55A>G",
"hgvs_p": null,
"transcript": "ENST00000666973.1",
"protein_id": "ENSP00000499288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": null,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666973.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4117A>G",
"hgvs_p": null,
"transcript": "ENST00000535385.6",
"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": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000535385.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3817A>G",
"hgvs_p": null,
"transcript": "ENST00000543938.6",
"protein_id": null,
"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": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543938.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3019A>G",
"hgvs_p": null,
"transcript": "ENST00000657321.1",
"protein_id": "ENSP00000499716.1",
"transcript_support_level": null,
"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": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000657321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*751A>G",
"hgvs_p": null,
"transcript": "ENST00000661532.1",
"protein_id": "ENSP00000499583.1",
"transcript_support_level": null,
"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": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000661532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3315A>G",
"hgvs_p": null,
"transcript": "ENST00000663651.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3828A>G",
"hgvs_p": null,
"transcript": "ENST00000667758.1",
"protein_id": "ENSP00000499318.1",
"transcript_support_level": null,
"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": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000667758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*2971A>G",
"hgvs_p": null,
"transcript": "ENST00000668385.1",
"protein_id": "ENSP00000499544.1",
"transcript_support_level": null,
"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": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000668385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.3757A>G",
"hgvs_p": null,
"transcript": "ENST00000679388.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.5861A>G",
"hgvs_p": null,
"transcript": "ENST00000679531.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.2051A>G",
"hgvs_p": null,
"transcript": "ENST00000679891.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4319A>G",
"hgvs_p": null,
"transcript": "ENST00000679950.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4653A>G",
"hgvs_p": null,
"transcript": "ENST00000680492.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.2590A>G",
"hgvs_p": null,
"transcript": "ENST00000680912.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4224A>G",
"hgvs_p": null,
"transcript": "ENST00000680946.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4730A>G",
"hgvs_p": null,
"transcript": "ENST00000681044.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3019A>G",
"hgvs_p": null,
"transcript": "ENST00000681327.1",
"protein_id": "ENSP00000505423.1",
"transcript_support_level": null,
"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": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.5420A>G",
"hgvs_p": null,
"transcript": "ENST00000681452.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5769,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.4526A>G",
"hgvs_p": null,
"transcript": "ENST00000681464.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3019A>G",
"hgvs_p": null,
"transcript": "ENST00000657321.1",
"protein_id": "ENSP00000499716.1",
"transcript_support_level": null,
"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": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000657321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*751A>G",
"hgvs_p": null,
"transcript": "ENST00000661532.1",
"protein_id": "ENSP00000499583.1",
"transcript_support_level": null,
"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": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000661532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3828A>G",
"hgvs_p": null,
"transcript": "ENST00000667758.1",
"protein_id": "ENSP00000499318.1",
"transcript_support_level": null,
"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": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000667758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*2971A>G",
"hgvs_p": null,
"transcript": "ENST00000668385.1",
"protein_id": "ENSP00000499544.1",
"transcript_support_level": null,
"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": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000668385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"hgvs_c": "n.*3019A>G",
"hgvs_p": null,
"transcript": "ENST00000681327.1",
"protein_id": "ENSP00000505423.1",
"transcript_support_level": null,
"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": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPEB1-AS1",
"gene_hgnc_id": 27523,
"hgvs_c": "n.1328+9490T>C",
"hgvs_p": null,
"transcript": "NR_046096.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046096.1"
}
],
"gene_symbol": "AP3B2",
"gene_hgnc_id": 567,
"dbsnp": "rs762681289",
"frequency_reference_population": 0.000039036455,
"hom_count_reference_population": 0,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.0000403646,
"gnomad_genomes_af": 0.0000262816,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2924227714538574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.0769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.789,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001278512.2",
"gene_symbol": "AP3B2",
"hgnc_id": 567,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3230A>G",
"hgvs_p": "p.Gln1077Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000560650.1",
"gene_symbol": "CPEB1-AS1",
"hgnc_id": 27523,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1328+9490T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}