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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: 1-23313632-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23313632&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23313632,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001102398.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "NM_005826.5",
"protein_id": "NP_005817.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "ENST00000302271.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005826.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "ENST00000302271.11",
"protein_id": "ENSP00000304405.6",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "NM_005826.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302271.11"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Glu366Gly",
"transcript": "ENST00000374616.7",
"protein_id": "ENSP00000363745.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 636,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374616.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Glu265Gly",
"transcript": "ENST00000478691.5",
"protein_id": "ENSP00000474437.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 535,
"cds_start": 794,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478691.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1103A>G",
"hgvs_p": "p.Glu368Gly",
"transcript": "ENST00000934775.1",
"protein_id": "ENSP00000604834.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 638,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934775.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1103A>G",
"hgvs_p": "p.Glu368Gly",
"transcript": "ENST00000934777.1",
"protein_id": "ENSP00000604836.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 638,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934777.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Glu366Gly",
"transcript": "NM_001102398.3",
"protein_id": "NP_001095868.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 636,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102398.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "NM_001438564.1",
"protein_id": "NP_001425493.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438564.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "ENST00000374612.5",
"protein_id": "ENSP00000363741.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374612.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "ENST00000934773.1",
"protein_id": "ENSP00000604832.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934773.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "ENST00000934778.1",
"protein_id": "ENSP00000604837.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934778.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Glu363Gly",
"transcript": "ENST00000947105.1",
"protein_id": "ENSP00000617164.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 633,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947105.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.983A>G",
"hgvs_p": "p.Glu328Gly",
"transcript": "ENST00000882596.1",
"protein_id": "ENSP00000552655.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 598,
"cds_start": 983,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882596.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.983A>G",
"hgvs_p": "p.Glu328Gly",
"transcript": "ENST00000882597.1",
"protein_id": "ENSP00000552656.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 598,
"cds_start": 983,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882597.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Glu325Gly",
"transcript": "NM_001297620.2",
"protein_id": "NP_001284549.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 595,
"cds_start": 974,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 7637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297620.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Glu325Gly",
"transcript": "ENST00000463552.6",
"protein_id": "ENSP00000502509.2",
"transcript_support_level": 4,
"aa_start": 325,
"aa_end": null,
"aa_length": 595,
"cds_start": 974,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 7683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463552.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Glu325Gly",
"transcript": "ENST00000882592.1",
"protein_id": "ENSP00000552651.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 595,
"cds_start": 974,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882592.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Glu325Gly",
"transcript": "ENST00000934779.1",
"protein_id": "ENSP00000604838.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 595,
"cds_start": 974,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934779.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Glu307Gly",
"transcript": "ENST00000882591.1",
"protein_id": "ENSP00000552650.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 577,
"cds_start": 920,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882591.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Glu307Gly",
"transcript": "ENST00000947104.1",
"protein_id": "ENSP00000617163.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 577,
"cds_start": 920,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947104.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Glu304Gly",
"transcript": "NM_001437727.1",
"protein_id": "NP_001424656.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 574,
"cds_start": 911,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 7574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437727.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Glu304Gly",
"transcript": "ENST00000470941.6",
"protein_id": "ENSP00000502234.2",
"transcript_support_level": 4,
"aa_start": 304,
"aa_end": null,
"aa_length": 574,
"cds_start": 911,
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"protein_id": "XP_011538776.1",
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"aa_start": 328,
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"aa_length": 598,
"cds_start": 983,
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"cds_length": 1797,
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"cdna_length": 7649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540474.4"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Glu304Gly",
"transcript": "XM_017000009.3",
"protein_id": "XP_016855498.1",
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"aa_start": 304,
"aa_end": null,
"aa_length": 574,
"cds_start": 911,
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"cds_length": 1725,
"cdna_start": 997,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000009.3"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Glu227Gly",
"transcript": "XM_011540476.4",
"protein_id": "XP_011538778.1",
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"aa_start": 227,
"aa_end": null,
"aa_length": 497,
"cds_start": 680,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 900,
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"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540476.4"
},
{
"aa_ref": "E",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Glu206Gly",
"transcript": "XM_011540477.4",
"protein_id": "XP_011538779.1",
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"aa_start": 206,
"aa_end": null,
"aa_length": 476,
"cds_start": 617,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 7417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540477.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "n.-32A>G",
"hgvs_p": null,
"transcript": "ENST00000641107.1",
"protein_id": "ENSP00000492909.1",
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"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": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641107.1"
}
],
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"dbsnp": "rs954695400",
"frequency_reference_population": 0.000001245918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.88189e-7,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3658182621002197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.1571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.87,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 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_001102398.3",
"gene_symbol": "HNRNPR",
"hgnc_id": 5047,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Glu366Gly"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}