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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: X-53256053-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53256053&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53256053,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000642864.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "NM_001111125.3",
"protein_id": "NP_001104595.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1488,
"cds_start": 746,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": "ENST00000642864.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "ENST00000642864.1",
"protein_id": "ENSP00000495726.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1488,
"cds_start": 746,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": "NM_001111125.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "ENST00000375365.2",
"protein_id": "ENSP00000364514.2",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 949,
"cds_start": 131,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "ENST00000638630.1",
"protein_id": "ENSP00000492390.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 255,
"cds_start": 35,
"cds_end": null,
"cds_length": 770,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Gly302Ala",
"transcript": "ENST00000706952.1",
"protein_id": "ENSP00000516672.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1541,
"cds_start": 905,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "ENST00000674510.1",
"protein_id": "ENSP00000502054.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1488,
"cds_start": 746,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Gly239Ala",
"transcript": "ENST00000675719.1",
"protein_id": "ENSP00000501927.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1478,
"cds_start": 716,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "NM_001441092.1",
"protein_id": "NP_001428021.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1168,
"cds_start": 746,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 7654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "NM_001410736.1",
"protein_id": "NP_001397665.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1154,
"cds_start": 746,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "ENST00000640694.1",
"protein_id": "ENSP00000492403.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 1154,
"cds_start": 746,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.248G>C",
"hgvs_p": "p.Gly83Ala",
"transcript": "NM_001441093.1",
"protein_id": "NP_001428022.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 988,
"cds_start": 248,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "NM_015075.2",
"protein_id": "NP_055890.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 949,
"cds_start": 131,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "NM_001441095.1",
"protein_id": "NP_001428024.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 931,
"cds_start": 35,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 6779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "NM_001441094.1",
"protein_id": "NP_001428023.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 917,
"cds_start": 35,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 5112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_006724579.4",
"protein_id": "XP_006724642.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1520,
"cds_start": 842,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.248G>C",
"hgvs_p": "p.Gly83Ala",
"transcript": "XM_017029360.2",
"protein_id": "XP_016884849.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 1322,
"cds_start": 248,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Gly44Ala",
"transcript": "XM_006724580.4",
"protein_id": "XP_006724643.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1283,
"cds_start": 131,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "XM_011530773.3",
"protein_id": "XP_011529075.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1251,
"cds_start": 35,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 5162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_006724581.5",
"protein_id": "XP_006724644.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1244,
"cds_start": 842,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_011530774.4",
"protein_id": "XP_011529076.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1222,
"cds_start": 842,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_006724582.5",
"protein_id": "XP_006724645.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1212,
"cds_start": 842,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_006724583.5",
"protein_id": "XP_006724646.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1200,
"cds_start": 842,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 7750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_047441928.1",
"protein_id": "XP_047297884.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1188,
"cds_start": 842,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1069,
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"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_006724584.4",
"protein_id": "XP_006724647.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1186,
"cds_start": 842,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_011530776.3",
"protein_id": "XP_011529078.1",
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"aa_start": 281,
"aa_end": null,
"aa_length": 1130,
"cds_start": 842,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 1069,
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"cdna_length": 4615,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Gly281Ala",
"transcript": "XM_011530777.3",
"protein_id": "XP_011529079.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1126,
"cds_start": 842,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "n.1069G>C",
"hgvs_p": null,
"transcript": "XR_938365.3",
"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": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"dbsnp": "rs1556865202",
"frequency_reference_population": 0.000017800086,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000189291,
"gnomad_genomes_af": 0.0000178001,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22106105089187622,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.2542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.306,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642864.1",
"gene_symbol": "IQSEC2",
"hgnc_id": 29059,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala"
}
],
"clinvar_disease": " X-linked 1,IQSEC2-related disorder,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Intellectual disability, X-linked 1|Inborn genetic diseases|IQSEC2-related disorder|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}