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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: 3-52824442-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52824442&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52824442,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002218.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "NM_002218.5",
"protein_id": "NP_002209.2",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 930,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266041.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002218.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000266041.9",
"protein_id": "ENSP00000266041.4",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 930,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002218.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266041.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000485816.5",
"protein_id": "ENSP00000417824.1",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 935,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485816.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Val191Met",
"transcript": "ENST00000441637.2",
"protein_id": "ENSP00000395634.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 718,
"cds_start": 571,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*1132G>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": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*1132G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468472.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Val386Met",
"transcript": "ENST00000953110.1",
"protein_id": "ENSP00000623169.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 982,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953110.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855374.1",
"protein_id": "ENSP00000525433.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 949,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855374.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855385.1",
"protein_id": "ENSP00000525444.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 944,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855385.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855363.1",
"protein_id": "ENSP00000525422.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 935,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855363.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855371.1",
"protein_id": "ENSP00000525430.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 935,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855371.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855390.1",
"protein_id": "ENSP00000525449.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 932,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855390.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855365.1",
"protein_id": "ENSP00000525424.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 930,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855365.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000953100.1",
"protein_id": "ENSP00000623159.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 930,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953100.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000953103.1",
"protein_id": "ENSP00000623162.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 927,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953103.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855384.1",
"protein_id": "ENSP00000525443.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 926,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855384.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000953104.1",
"protein_id": "ENSP00000623163.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 926,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953104.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000855412.1",
"protein_id": "ENSP00000525471.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 924,
"cds_start": 967,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855412.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Val328Met",
"transcript": "ENST00000953102.1",
"protein_id": "ENSP00000623161.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 924,
"cds_start": 982,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953102.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Val322Met",
"transcript": "ENST00000855403.1",
"protein_id": "ENSP00000525462.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 923,
"cds_start": 964,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855403.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855407.1",
"protein_id": "ENSP00000525466.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 921,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855407.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Met",
"transcript": "ENST00000855387.1",
"protein_id": "ENSP00000525446.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 919,
"cds_start": 967,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855387.1"
},
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"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ITIH4",
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"hgvs_p": "p.Val334Met",
"transcript": "ENST00000855406.1",
"protein_id": "ENSP00000525465.1",
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"aa_start": 334,
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"aa_length": 810,
"cds_start": 1000,
"cds_end": null,
"cds_length": 2433,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855406.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "ITIH4",
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"hgvs_c": "c.1000G>A",
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"transcript": "ENST00000953105.1",
"protein_id": "ENSP00000623164.1",
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"cds_start": 1000,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
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"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": 8,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
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"hgvs_c": "n.1045G>A",
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"transcript": "ENST00000491663.5",
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"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491663.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
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"hgvs_c": "n.885G>A",
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"transcript": "ENST00000537897.5",
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"aa_end": null,
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"cds_start": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000537897.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "ITIH4-AS1",
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"transcript": "ENST00000478366.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000478366.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ITIH4-AS1",
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"hgvs_c": "n.285+105C>T",
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"transcript": "NR_046615.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046615.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
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"hgvs_c": "n.*19G>A",
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"transcript": "ENST00000483372.1",
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483372.1"
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],
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"dbsnp": "rs773848439",
"frequency_reference_population": 0.000030098354,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000300984,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2408505082130432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1318,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.354,
"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": "NM_002218.5",
"gene_symbol": "ITIH4",
"hgnc_id": 6169,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468472.1",
"gene_symbol": "ENSG00000243696",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1132G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000478366.1",
"gene_symbol": "ITIH4-AS1",
"hgnc_id": 40310,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285+105C>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
}