← 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: 2-213007790-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=213007790&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 213007790,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387220.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr",
"transcript": "NM_001387220.1",
"protein_id": "NP_001374149.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 526,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 9562,
"mane_select": "ENST00000434687.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr",
"transcript": "ENST00000434687.6",
"protein_id": "ENSP00000412869.1",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 526,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 9562,
"mane_select": "NM_001387220.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1169T>C",
"hgvs_p": "p.Ile390Thr",
"transcript": "ENST00000342002.6",
"protein_id": "ENSP00000342876.2",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 532,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"transcript": "ENST00000374319.8",
"protein_id": "ENSP00000363439.4",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 500,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2001,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*809T>C",
"hgvs_p": null,
"transcript": "ENST00000374326.7",
"protein_id": "ENSP00000363446.3",
"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": 1401,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*1145T>C",
"hgvs_p": null,
"transcript": "ENST00000412444.5",
"protein_id": "ENSP00000413680.1",
"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": 1737,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*630T>C",
"hgvs_p": null,
"transcript": "ENST00000431520.5",
"protein_id": "ENSP00000396253.1",
"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": 1780,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*883T>C",
"hgvs_p": null,
"transcript": "ENST00000439848.5",
"protein_id": "ENSP00000389548.1",
"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": 1763,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*998T>C",
"hgvs_p": null,
"transcript": "ENST00000453575.5",
"protein_id": "ENSP00000411444.1",
"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": 1594,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.1783T>C",
"hgvs_p": null,
"transcript": "ENST00000484040.1",
"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": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*809T>C",
"hgvs_p": null,
"transcript": "ENST00000374326.7",
"protein_id": "ENSP00000363446.3",
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*1145T>C",
"hgvs_p": null,
"transcript": "ENST00000412444.5",
"protein_id": "ENSP00000413680.1",
"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": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*630T>C",
"hgvs_p": null,
"transcript": "ENST00000431520.5",
"protein_id": "ENSP00000396253.1",
"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": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*883T>C",
"hgvs_p": null,
"transcript": "ENST00000439848.5",
"protein_id": "ENSP00000389548.1",
"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": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*998T>C",
"hgvs_p": null,
"transcript": "ENST00000453575.5",
"protein_id": "ENSP00000411444.1",
"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": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr",
"transcript": "NM_001371274.1",
"protein_id": "NP_001358203.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 526,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr",
"transcript": "NM_016260.3",
"protein_id": "NP_057344.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 526,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 9515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"transcript": "NM_001079526.2",
"protein_id": "NP_001072994.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 500,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 9484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"transcript": "NM_001371275.1",
"protein_id": "NP_001358204.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 500,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 9474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"transcript": "NM_001371276.1",
"protein_id": "NP_001358205.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 500,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 9380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.926T>C",
"hgvs_p": "p.Ile309Thr",
"transcript": "NM_001371277.1",
"protein_id": "NP_001358206.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 451,
"cds_start": 926,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 9364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.806T>C",
"hgvs_p": "p.Ile269Thr",
"transcript": "ENST00000457361.5",
"protein_id": "ENSP00000410447.2",
"transcript_support_level": 5,
"aa_start": 269,
"aa_end": null,
"aa_length": 411,
"cds_start": 806,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 9350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.800T>C",
"hgvs_p": "p.Ile267Thr",
"transcript": "ENST00000451136.6",
"protein_id": "ENSP00000395203.3",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 409,
"cds_start": 800,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 9344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Ile391Thr",
"transcript": "XM_011510802.4",
"protein_id": "XP_011509104.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 533,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Ile391Thr",
"transcript": "XM_011510803.4",
"protein_id": "XP_011509105.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 533,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 9398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Ile391Thr",
"transcript": "XM_011510804.4",
"protein_id": "XP_011509106.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 533,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 9390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Ile391Thr",
"transcript": "XM_011510805.4",
"protein_id": "XP_011509107.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 533,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 9659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1169T>C",
"hgvs_p": "p.Ile390Thr",
"transcript": "XM_047443721.1",
"protein_id": "XP_047299677.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 532,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1169T>C",
"hgvs_p": "p.Ile390Thr",
"transcript": "XM_047443722.1",
"protein_id": "XP_047299678.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 532,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 9525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1169T>C",
"hgvs_p": "p.Ile390Thr",
"transcript": "XM_047443723.1",
"protein_id": "XP_047299679.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 532,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 9656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "XM_011510807.4",
"protein_id": "XP_011509109.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 9565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "XM_011510808.4",
"protein_id": "XP_011509110.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 9435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "XM_011510809.4",
"protein_id": "XP_011509111.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "XM_011510810.4",
"protein_id": "XP_011509112.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 9427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "XM_011510811.4",
"protein_id": "XP_011509113.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 9461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Ile385Thr",
"transcript": "XM_011510812.4",
"protein_id": "XP_011509114.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 9592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1094T>C",
"hgvs_p": "p.Ile365Thr",
"transcript": "XM_011510815.4",
"protein_id": "XP_011509117.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 507,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 9440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Ile364Thr",
"transcript": "XM_005246386.6",
"protein_id": "XP_005246443.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 506,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 9317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Ile360Thr",
"transcript": "XM_011510816.4",
"protein_id": "XP_011509118.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 502,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1028T>C",
"hgvs_p": "p.Ile343Thr",
"transcript": "XM_011510817.4",
"protein_id": "XP_011509119.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 485,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 9374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Ile342Thr",
"transcript": "XM_047443724.1",
"protein_id": "XP_047299680.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 484,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 9371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1007T>C",
"hgvs_p": "p.Ile336Thr",
"transcript": "XM_047443725.1",
"protein_id": "XP_047299681.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 478,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 9445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1001T>C",
"hgvs_p": "p.Ile334Thr",
"transcript": "XM_047443726.1",
"protein_id": "XP_047299682.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 476,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 9677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.992T>C",
"hgvs_p": "p.Ile331Thr",
"transcript": "XM_011510818.4",
"protein_id": "XP_011509120.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 473,
"cds_start": 992,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 51257,
"cdna_end": null,
"cdna_length": 59349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.947T>C",
"hgvs_p": "p.Ile316Thr",
"transcript": "XM_011510819.4",
"protein_id": "XP_011509121.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 458,
"cds_start": 947,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 9293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "XM_047443727.1",
"protein_id": "XP_047299683.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 452,
"cds_start": 929,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 9367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273118",
"gene_hgnc_id": null,
"hgvs_c": "n.81+13675T>C",
"hgvs_p": null,
"transcript": "ENST00000415387.1",
"protein_id": null,
"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": 433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"dbsnp": "rs762103534",
"frequency_reference_population": 0.00001984298,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.000019843,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20909664034843445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.6515,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.647,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001387220.1",
"gene_symbol": "IKZF2",
"hgnc_id": 13177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.1151T>C",
"hgvs_p": "p.Ile384Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000415387.1",
"gene_symbol": "ENSG00000273118",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81+13675T>C",
"hgvs_p": null
}
],
"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
}