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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: 3-52816957-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52816957&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52816957,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002218.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2398C>A",
"hgvs_p": "p.His800Asn",
"transcript": "NM_002218.5",
"protein_id": "NP_002209.2",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 930,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "ENST00000266041.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002218.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2398C>A",
"hgvs_p": "p.His800Asn",
"transcript": "ENST00000266041.9",
"protein_id": "ENSP00000266041.4",
"transcript_support_level": 1,
"aa_start": 800,
"aa_end": null,
"aa_length": 930,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "NM_002218.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266041.9"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2413C>A",
"hgvs_p": "p.His805Asn",
"transcript": "ENST00000485816.5",
"protein_id": "ENSP00000417824.1",
"transcript_support_level": 1,
"aa_start": 805,
"aa_end": null,
"aa_length": 935,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485816.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1762C>A",
"hgvs_p": "p.His588Asn",
"transcript": "ENST00000441637.2",
"protein_id": "ENSP00000395634.2",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 718,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1763,
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*4034C>A",
"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": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*4034C>A",
"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": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2554C>A",
"hgvs_p": "p.His852Asn",
"transcript": "ENST00000953110.1",
"protein_id": "ENSP00000623169.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 982,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953110.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2455C>A",
"hgvs_p": "p.His819Asn",
"transcript": "ENST00000855374.1",
"protein_id": "ENSP00000525433.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 949,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2483,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855374.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2440C>A",
"hgvs_p": "p.His814Asn",
"transcript": "ENST00000855385.1",
"protein_id": "ENSP00000525444.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 944,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855385.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2413C>A",
"hgvs_p": "p.His805Asn",
"transcript": "ENST00000855363.1",
"protein_id": "ENSP00000525422.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 935,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855363.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2413C>A",
"hgvs_p": "p.His805Asn",
"transcript": "ENST00000855371.1",
"protein_id": "ENSP00000525430.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 935,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855371.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2404C>A",
"hgvs_p": "p.His802Asn",
"transcript": "ENST00000855390.1",
"protein_id": "ENSP00000525449.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 932,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855390.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2398C>A",
"hgvs_p": "p.His800Asn",
"transcript": "ENST00000855365.1",
"protein_id": "ENSP00000525424.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 930,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855365.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2398C>A",
"hgvs_p": "p.His800Asn",
"transcript": "ENST00000953100.1",
"protein_id": "ENSP00000623159.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 930,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953100.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2389C>A",
"hgvs_p": "p.His797Asn",
"transcript": "ENST00000953103.1",
"protein_id": "ENSP00000623162.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 927,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953103.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2386C>A",
"hgvs_p": "p.His796Asn",
"transcript": "ENST00000855384.1",
"protein_id": "ENSP00000525443.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 926,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855384.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2386C>A",
"hgvs_p": "p.His796Asn",
"transcript": "ENST00000953104.1",
"protein_id": "ENSP00000623163.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 926,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953104.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2380C>A",
"hgvs_p": "p.His794Asn",
"transcript": "ENST00000855412.1",
"protein_id": "ENSP00000525471.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 924,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855412.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2380C>A",
"hgvs_p": "p.His794Asn",
"transcript": "ENST00000953102.1",
"protein_id": "ENSP00000623161.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 924,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953102.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2377C>A",
"hgvs_p": "p.His793Asn",
"transcript": "ENST00000855403.1",
"protein_id": "ENSP00000525462.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 923,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855403.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2371C>A",
"hgvs_p": "p.His791Asn",
"transcript": "ENST00000855407.1",
"protein_id": "ENSP00000525466.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 921,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855407.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2365C>A",
"hgvs_p": "p.His789Asn",
"transcript": "ENST00000855387.1",
"protein_id": "ENSP00000525446.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 919,
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
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"hgvs_p": "p.His697Asn",
"transcript": "ENST00000953101.1",
"protein_id": "ENSP00000623160.1",
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"aa_end": null,
"aa_length": 827,
"cds_start": 2089,
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"cdna_start": 2113,
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"cdna_length": 2938,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953101.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
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"hgvs_c": "c.2038C>A",
"hgvs_p": "p.His680Asn",
"transcript": "ENST00000855406.1",
"protein_id": "ENSP00000525465.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 810,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855406.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ITIH4",
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"hgvs_c": "c.1990C>A",
"hgvs_p": "p.His664Asn",
"transcript": "ENST00000953105.1",
"protein_id": "ENSP00000623164.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 794,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"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": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ITIH4",
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"hgvs_c": "n.615C>A",
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"transcript": "ENST00000461966.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 775,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461966.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "n.2590C>A",
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"transcript": "ENST00000491663.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491663.5"
}
],
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"dbsnp": "rs1011774978",
"frequency_reference_population": 0.00006939548,
"hom_count_reference_population": 0,
"allele_count_reference_population": 112,
"gnomad_exomes_af": 0.0000732008,
"gnomad_genomes_af": 0.0000328502,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2872811555862427,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.0793,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.94,
"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": 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.2398C>A",
"hgvs_p": "p.His800Asn"
},
{
"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.*4034C>A",
"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
}