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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: 3-52814015-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52814015&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52814015,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002218.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Cys",
"transcript": "NM_002218.5",
"protein_id": "NP_002209.2",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 930,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "ENST00000266041.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002218.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Cys",
"transcript": "ENST00000266041.9",
"protein_id": "ENSP00000266041.4",
"transcript_support_level": 1,
"aa_start": 895,
"aa_end": null,
"aa_length": 930,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "NM_002218.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266041.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2698C>T",
"hgvs_p": "p.Arg900Cys",
"transcript": "ENST00000485816.5",
"protein_id": "ENSP00000417824.1",
"transcript_support_level": 1,
"aa_start": 900,
"aa_end": null,
"aa_length": 935,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485816.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683Cys",
"transcript": "ENST00000441637.2",
"protein_id": "ENSP00000395634.2",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 718,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441637.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*4319C>T",
"hgvs_p": null,
"transcript": "ENST00000468472.1",
"protein_id": "ENSP00000422253.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*4319C>T",
"hgvs_p": null,
"transcript": "ENST00000468472.1",
"protein_id": "ENSP00000422253.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468472.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Arg947Cys",
"transcript": "ENST00000953110.1",
"protein_id": "ENSP00000623169.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 982,
"cds_start": 2839,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953110.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Arg914Cys",
"transcript": "ENST00000855374.1",
"protein_id": "ENSP00000525433.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 949,
"cds_start": 2740,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2768,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855374.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "ENST00000855385.1",
"protein_id": "ENSP00000525444.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 944,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2753,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855385.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2698C>T",
"hgvs_p": "p.Arg900Cys",
"transcript": "ENST00000855363.1",
"protein_id": "ENSP00000525422.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 935,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855363.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2698C>T",
"hgvs_p": "p.Arg900Cys",
"transcript": "ENST00000855371.1",
"protein_id": "ENSP00000525430.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 935,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2829,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855371.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2689C>T",
"hgvs_p": "p.Arg897Cys",
"transcript": "ENST00000855390.1",
"protein_id": "ENSP00000525449.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 932,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855390.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Cys",
"transcript": "ENST00000855365.1",
"protein_id": "ENSP00000525424.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 930,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855365.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Cys",
"transcript": "ENST00000953100.1",
"protein_id": "ENSP00000623159.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 930,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953100.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2674C>T",
"hgvs_p": "p.Arg892Cys",
"transcript": "ENST00000953103.1",
"protein_id": "ENSP00000623162.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 927,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2702,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953103.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2671C>T",
"hgvs_p": "p.Arg891Cys",
"transcript": "ENST00000855384.1",
"protein_id": "ENSP00000525443.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 926,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855384.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2671C>T",
"hgvs_p": "p.Arg891Cys",
"transcript": "ENST00000953104.1",
"protein_id": "ENSP00000623163.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 926,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953104.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2665C>T",
"hgvs_p": "p.Arg889Cys",
"transcript": "ENST00000855412.1",
"protein_id": "ENSP00000525471.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 924,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855412.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2665C>T",
"hgvs_p": "p.Arg889Cys",
"transcript": "ENST00000953102.1",
"protein_id": "ENSP00000623161.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 924,
"cds_start": 2665,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953102.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2662C>T",
"hgvs_p": "p.Arg888Cys",
"transcript": "ENST00000855403.1",
"protein_id": "ENSP00000525462.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 923,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855403.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2656C>T",
"hgvs_p": "p.Arg886Cys",
"transcript": "ENST00000855407.1",
"protein_id": "ENSP00000525466.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 921,
"cds_start": 2656,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855407.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2650C>T",
"hgvs_p": "p.Arg884Cys",
"transcript": "ENST00000855387.1",
"protein_id": "ENSP00000525446.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
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"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"exon_count": 19,
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"gene_symbol": "ITIH4",
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"hgvs_c": "c.2374C>T",
"hgvs_p": "p.Arg792Cys",
"transcript": "ENST00000953101.1",
"protein_id": "ENSP00000623160.1",
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"aa_start": 792,
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"aa_length": 827,
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"cdna_start": 2398,
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"cdna_length": 2938,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000953101.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ITIH4",
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"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Cys",
"transcript": "ENST00000855406.1",
"protein_id": "ENSP00000525465.1",
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"aa_start": 775,
"aa_end": null,
"aa_length": 810,
"cds_start": 2323,
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"cds_length": 2433,
"cdna_start": 2351,
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"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855406.1"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
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"exon_count": 19,
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"gene_symbol": "ITIH4",
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"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Cys",
"transcript": "ENST00000953105.1",
"protein_id": "ENSP00000623164.1",
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"aa_start": 759,
"aa_end": null,
"aa_length": 794,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 2550,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953105.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ITIH4",
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"hgvs_c": "n.198C>T",
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"transcript": "ENST00000464000.1",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464000.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
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"exon_count": 23,
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"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "n.2875C>T",
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"transcript": "ENST00000491663.5",
"protein_id": null,
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491663.5"
}
],
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"dbsnp": "rs762075835",
"frequency_reference_population": 0.00000957937,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957937,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3937676250934601,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.2474,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002218.5",
"gene_symbol": "ITIH4",
"hgnc_id": 6169,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Cys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468472.1",
"gene_symbol": "ENSG00000243696",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*4319C>T",
"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
}