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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: 15-90970423-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90970423&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90970423,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003981.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "NM_003981.4",
"protein_id": "NP_003972.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 620,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394249.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003981.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "ENST00000394249.8",
"protein_id": "ENSP00000377793.3",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 620,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003981.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394249.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "ENST00000361188.9",
"protein_id": "ENSP00000354679.5",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 606,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361188.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284946",
"gene_hgnc_id": null,
"hgvs_c": "n.*1516T>G",
"hgvs_p": null,
"transcript": "ENST00000643536.1",
"protein_id": "ENSP00000494429.1",
"transcript_support_level": null,
"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": "ENST00000643536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284946",
"gene_hgnc_id": null,
"hgvs_c": "n.*1516T>G",
"hgvs_p": null,
"transcript": "ENST00000643536.1",
"protein_id": "ENSP00000494429.1",
"transcript_support_level": null,
"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": "ENST00000643536.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1745T>G",
"hgvs_p": "p.Leu582Arg",
"transcript": "ENST00000879803.1",
"protein_id": "ENSP00000549862.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 670,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879803.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1679T>G",
"hgvs_p": "p.Leu560Arg",
"transcript": "ENST00000929684.1",
"protein_id": "ENSP00000599743.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 648,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929684.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "ENST00000929685.1",
"protein_id": "ENSP00000599744.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 619,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929685.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1541T>G",
"hgvs_p": "p.Leu514Arg",
"transcript": "ENST00000879804.1",
"protein_id": "ENSP00000549863.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 616,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879804.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "NM_199413.3",
"protein_id": "NP_955445.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 606,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199413.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1430T>G",
"hgvs_p": "p.Leu477Arg",
"transcript": "NM_001267580.2",
"protein_id": "NP_001254509.2",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 525,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267580.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1430T>G",
"hgvs_p": "p.Leu477Arg",
"transcript": "ENST00000442656.6",
"protein_id": "ENSP00000409549.2",
"transcript_support_level": 2,
"aa_start": 477,
"aa_end": null,
"aa_length": 525,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442656.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.401T>G",
"hgvs_p": "p.Leu134Arg",
"transcript": "ENST00000555455.5",
"protein_id": "ENSP00000451344.1",
"transcript_support_level": 3,
"aa_start": 134,
"aa_end": null,
"aa_length": 237,
"cds_start": 401,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555455.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.53T>G",
"hgvs_p": "p.Leu18Arg",
"transcript": "ENST00000560423.5",
"protein_id": "ENSP00000453977.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 63,
"cds_start": 53,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560423.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.5T>G",
"hgvs_p": "p.Leu2Arg",
"transcript": "ENST00000556972.6",
"protein_id": "ENSP00000456737.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 46,
"cds_start": 5,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556972.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "XM_011522187.3",
"protein_id": "XP_011520489.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 621,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522187.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "XM_011522188.4",
"protein_id": "XP_011520490.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 607,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522188.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1397T>G",
"hgvs_p": "p.Leu466Arg",
"transcript": "XM_017022714.3",
"protein_id": "XP_016878203.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 569,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022714.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "XM_005254987.4",
"protein_id": "XP_005255044.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 566,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254987.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1382T>G",
"hgvs_p": "p.Leu461Arg",
"transcript": "XM_011522190.4",
"protein_id": "XP_011520492.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 564,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522190.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "XM_006720759.3",
"protein_id": "XP_006720822.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 563,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720759.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRC1",
"gene_hgnc_id": 9341,
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg",
"transcript": "XM_011522191.4",
"protein_id": "XP_011520493.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 563,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 12,
"intron_rank": 10,
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"transcript": "XM_047433313.1",
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"aa_length": 468,
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 4,
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"biotype": "pseudogene",
"feature": "ENST00000554388.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 2,
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"gene_symbol": "PRC1-AS1",
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"transcript": "ENST00000556200.1",
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"biotype": "pseudogene",
"feature": "ENST00000556200.1"
},
{
"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": 5,
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"gene_symbol": "PRC1-AS1",
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"hgvs_c": "n.363+1211A>C",
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"transcript": "ENST00000660154.2",
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"biotype": "pseudogene",
"feature": "ENST00000660154.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "PRC1-AS1",
"gene_hgnc_id": 48587,
"hgvs_c": "n.310+3745A>C",
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"transcript": "NR_051984.1",
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"aa_length": null,
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"cds_length": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_051984.1"
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],
"gene_symbol": "PRC1",
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"dbsnp": "rs138971118",
"frequency_reference_population": 0.000002485213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000137236,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2642320990562439,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.1299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.663,
"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_003981.4",
"gene_symbol": "PRC1",
"hgnc_id": 9341,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1553T>G",
"hgvs_p": "p.Leu518Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643536.1",
"gene_symbol": "ENSG00000284946",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1516T>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000554388.2",
"gene_symbol": "PRC1-AS1",
"hgnc_id": 48587,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.339+3745A>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
}