← 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: 14-36314710-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=36314710&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 36314710,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016586.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "NM_016586.3",
"protein_id": "NP_057670.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 344,
"cds_start": 455,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000416007.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016586.3"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000416007.9",
"protein_id": "ENSP00000399718.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 344,
"cds_start": 455,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416007.9"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000318473.11",
"protein_id": "ENSP00000324444.5",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 343,
"cds_start": 455,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318473.11"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000359527.11",
"protein_id": "ENSP00000352517.5",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 282,
"cds_start": 455,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359527.11"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.491T>A",
"hgvs_p": "p.Ile164Lys",
"transcript": "ENST00000917538.1",
"protein_id": "ENSP00000587597.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 356,
"cds_start": 491,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917538.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.491T>A",
"hgvs_p": "p.Ile164Lys",
"transcript": "ENST00000917537.1",
"protein_id": "ENSP00000587596.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 355,
"cds_start": 491,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917537.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000917541.1",
"protein_id": "ENSP00000587600.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 355,
"cds_start": 455,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917541.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.479T>A",
"hgvs_p": "p.Ile160Lys",
"transcript": "ENST00000917539.1",
"protein_id": "ENSP00000587598.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 352,
"cds_start": 479,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917539.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000905197.1",
"protein_id": "ENSP00000575256.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 351,
"cds_start": 455,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905197.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "NM_001144891.2",
"protein_id": "NP_001138363.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 343,
"cds_start": 455,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144891.2"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000950008.1",
"protein_id": "ENSP00000620067.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 343,
"cds_start": 455,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950008.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000905201.1",
"protein_id": "ENSP00000575260.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 341,
"cds_start": 455,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905201.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.446T>A",
"hgvs_p": "p.Ile149Lys",
"transcript": "ENST00000950007.1",
"protein_id": "ENSP00000620066.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 341,
"cds_start": 446,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950007.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Ile137Lys",
"transcript": "ENST00000905199.1",
"protein_id": "ENSP00000575258.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 329,
"cds_start": 410,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905199.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.476T>A",
"hgvs_p": "p.Ile159Lys",
"transcript": "ENST00000905202.1",
"protein_id": "ENSP00000575261.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 329,
"cds_start": 476,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905202.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.476T>A",
"hgvs_p": "p.Ile159Lys",
"transcript": "ENST00000905200.1",
"protein_id": "ENSP00000575259.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 328,
"cds_start": 476,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905200.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Ile137Lys",
"transcript": "ENST00000917540.1",
"protein_id": "ENSP00000587599.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 328,
"cds_start": 410,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917540.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000905196.1",
"protein_id": "ENSP00000575255.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 322,
"cds_start": 455,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905196.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "ENST00000905198.1",
"protein_id": "ENSP00000575257.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 321,
"cds_start": 455,
"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": "ENST00000905198.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Ile137Lys",
"transcript": "ENST00000950009.1",
"protein_id": "ENSP00000620068.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 307,
"cds_start": 410,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950009.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.443T>A",
"hgvs_p": "p.Ile148Lys",
"transcript": "ENST00000605579.5",
"protein_id": "ENSP00000473739.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 298,
"cds_start": 443,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605579.5"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "NM_001308110.2",
"protein_id": "NP_001295039.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 282,
"cds_start": 455,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308110.2"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.476T>A",
"hgvs_p": "p.Ile159Lys",
"transcript": "ENST00000604336.5",
"protein_id": "ENSP00000474535.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 280,
"cds_start": 476,
"cds_end": null,
"cds_length": 844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604336.5"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Lys",
"transcript": "ENST00000603139.1",
"protein_id": "ENSP00000474583.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 221,
"cds_start": 335,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603139.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.329T>A",
"hgvs_p": "p.Ile110Lys",
"transcript": "ENST00000604160.1",
"protein_id": "ENSP00000474845.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 111,
"cds_start": 329,
"cds_end": null,
"cds_length": 338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604160.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "XM_005267754.5",
"protein_id": "XP_005267811.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 322,
"cds_start": 455,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267754.5"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "XM_047431469.1",
"protein_id": "XP_047287425.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 321,
"cds_start": 455,
"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_047431469.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "XM_005267756.6",
"protein_id": "XP_005267813.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 281,
"cds_start": 455,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267756.6"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "XM_047431470.1",
"protein_id": "XP_047287426.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 260,
"cds_start": 455,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431470.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys",
"transcript": "XM_017021367.3",
"protein_id": "XP_016876856.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 259,
"cds_start": 455,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021367.3"
}
],
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"dbsnp": null,
"frequency_reference_population": 0.0000027373599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273736,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8335599899291992,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.573,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.156,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016586.3",
"gene_symbol": "MBIP",
"hgnc_id": 20427,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.455T>A",
"hgvs_p": "p.Ile152Lys"
}
],
"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
}