← 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: 6-33304438-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33304438&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33304438,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000434618.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "NM_003190.5",
"protein_id": "NP_003181.3",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 448,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": "ENST00000434618.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "ENST00000434618.7",
"protein_id": "ENSP00000395701.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 448,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": "NM_003190.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "ENST00000426633.6",
"protein_id": "ENSP00000404833.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 504,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Asp270His",
"transcript": "ENST00000489157.6",
"protein_id": "ENSP00000419659.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 361,
"cds_start": 808,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3355,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1069G>C",
"hgvs_p": null,
"transcript": "ENST00000437116.2",
"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": 1239,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1427G>C",
"hgvs_p": null,
"transcript": "ENST00000480730.5",
"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": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "NM_172208.3",
"protein_id": "NP_757345.2",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 504,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "ENST00000699656.1",
"protein_id": "ENSP00000514505.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 490,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Asp375His",
"transcript": "ENST00000475304.5",
"protein_id": "ENSP00000417949.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 466,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "NM_001410875.1",
"protein_id": "NP_001397804.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 459,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "ENST00000699657.1",
"protein_id": "ENSP00000514506.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 459,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Asp270His",
"transcript": "NM_172209.3",
"protein_id": "NP_757346.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 361,
"cds_start": 808,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Asp265His",
"transcript": "ENST00000699650.1",
"protein_id": "ENSP00000514501.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 356,
"cds_start": 793,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Asp173His",
"transcript": "ENST00000699649.1",
"protein_id": "ENSP00000514500.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 264,
"cds_start": 517,
"cds_end": null,
"cds_length": 795,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Asp173His",
"transcript": "ENST00000699651.1",
"protein_id": "ENSP00000514502.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 264,
"cds_start": 517,
"cds_end": null,
"cds_length": 795,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His",
"transcript": "XM_011514828.4",
"protein_id": "XP_011513130.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 429,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Asp270His",
"transcript": "XM_047419271.1",
"protein_id": "XP_047275227.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 372,
"cds_start": 808,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Asp270His",
"transcript": "XM_047419272.1",
"protein_id": "XP_047275228.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 342,
"cds_start": 808,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3064,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.898G>C",
"hgvs_p": null,
"transcript": "ENST00000467025.2",
"protein_id": "ENSP00000417523.2",
"transcript_support_level": 3,
"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": 2785,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1528G>C",
"hgvs_p": null,
"transcript": "ENST00000699647.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3860,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1807G>C",
"hgvs_p": null,
"transcript": "ENST00000699653.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4133,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1632G>C",
"hgvs_p": null,
"transcript": "ENST00000699655.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3956,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.93G>C",
"hgvs_p": null,
"transcript": "ENST00000699658.1",
"protein_id": null,
"transcript_support_level": null,
"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": 506,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1069G>C",
"hgvs_p": null,
"transcript": "ENST00000699659.1",
"protein_id": "ENSP00000514507.1",
"transcript_support_level": null,
"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": 2679,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1632G>C",
"hgvs_p": null,
"transcript": "ENST00000699660.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2931,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1632G>C",
"hgvs_p": null,
"transcript": "ENST00000699661.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2999,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.913G>C",
"hgvs_p": null,
"transcript": "ENST00000699662.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2263,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1282G>C",
"hgvs_p": null,
"transcript": "ENST00000699663.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2191,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1632G>C",
"hgvs_p": null,
"transcript": "ENST00000699664.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.869-221G>C",
"hgvs_p": null,
"transcript": "ENST00000699652.1",
"protein_id": "ENSP00000514503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.869-449G>C",
"hgvs_p": null,
"transcript": "ENST00000699648.1",
"protein_id": "ENSP00000514499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.608-221G>C",
"hgvs_p": null,
"transcript": "ENST00000699654.1",
"protein_id": "ENSP00000514504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"dbsnp": "rs376210117",
"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": 0.6550682783126831,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.7693,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.691,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434618.7",
"gene_symbol": "TAPBP",
"hgnc_id": 11566,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Asp357His"
}
],
"clinvar_disease": "MHC class I deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class I deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}