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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: 11-78436798-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78436798&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78436798,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001425299.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Arg436*",
"transcript": "NM_024678.6",
"protein_id": "NP_078954.4",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 477,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "ENST00000281038.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024678.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Arg436*",
"transcript": "ENST00000281038.10",
"protein_id": "ENSP00000281038.5",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 477,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": "NM_024678.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281038.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477*",
"transcript": "NM_001425299.1",
"protein_id": "NP_001412228.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 518,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425299.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Arg468*",
"transcript": "ENST00000695360.1",
"protein_id": "ENSP00000511835.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695360.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1279C>T",
"hgvs_p": "p.Arg427*",
"transcript": "NM_001425300.1",
"protein_id": "NP_001412229.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 468,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425300.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412*",
"transcript": "NM_001425301.1",
"protein_id": "NP_001412230.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 453,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425301.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409*",
"transcript": "NM_001425302.1",
"protein_id": "NP_001412231.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 450,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425302.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Arg400*",
"transcript": "NM_001425303.1",
"protein_id": "NP_001412232.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 441,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425303.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Arg400*",
"transcript": "ENST00000695344.1",
"protein_id": "ENSP00000511819.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 441,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695344.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "NM_001425304.1",
"protein_id": "NP_001412233.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 431,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425304.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390*",
"transcript": "ENST00000935323.1",
"protein_id": "ENSP00000605382.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 431,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935323.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368*",
"transcript": "ENST00000695351.1",
"protein_id": "ENSP00000511826.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 409,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695351.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366*",
"transcript": "NM_001425306.1",
"protein_id": "NP_001412235.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 407,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425306.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366*",
"transcript": "ENST00000935324.1",
"protein_id": "ENSP00000605383.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 407,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935324.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360*",
"transcript": "NM_001425307.1",
"protein_id": "NP_001412236.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 401,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425307.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359*",
"transcript": "NM_001425308.1",
"protein_id": "NP_001412237.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425308.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346*",
"transcript": "NM_001425309.1",
"protein_id": "NP_001412238.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 387,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425309.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Arg337*",
"transcript": "ENST00000935325.1",
"protein_id": "ENSP00000605384.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 378,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935325.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250*",
"transcript": "NM_001425310.1",
"protein_id": "NP_001412239.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 291,
"cds_start": 748,
"cds_end": null,
"cds_length": 876,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425310.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*",
"transcript": "NM_001425311.1",
"protein_id": "NP_001412240.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 260,
"cds_start": 655,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425311.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209*",
"transcript": "NM_001243251.2",
"protein_id": "NP_001230180.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 250,
"cds_start": 625,
"cds_end": null,
"cds_length": 753,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243251.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209*",
"transcript": "NM_001425312.1",
"protein_id": "NP_001412241.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 250,
"cds_start": 625,
"cds_end": null,
"cds_length": 753,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425312.1"
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"gene_hgnc_id": 26274,
"hgvs_c": "n.*599C>T",
"hgvs_p": null,
"transcript": "ENST00000695362.1",
"protein_id": "ENSP00000511837.1",
"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": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"hgvs_c": "n.*169C>T",
"hgvs_p": null,
"transcript": "ENST00000695366.1",
"protein_id": "ENSP00000511838.1",
"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": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288853",
"gene_hgnc_id": null,
"hgvs_c": "n.36-6850G>A",
"hgvs_p": null,
"transcript": "ENST00000716185.1",
"protein_id": null,
"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": 437,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000716185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288853",
"gene_hgnc_id": null,
"hgvs_c": "n.102-6850G>A",
"hgvs_p": null,
"transcript": "ENST00000841442.1",
"protein_id": null,
"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": 508,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000841442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288853",
"gene_hgnc_id": null,
"hgvs_c": "n.204+51G>A",
"hgvs_p": null,
"transcript": "ENST00000841443.1",
"protein_id": null,
"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": 609,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000841443.1"
}
],
"gene_symbol": "NARS2",
"gene_hgnc_id": 26274,
"dbsnp": "rs751383065",
"frequency_reference_population": 0.0000130124745,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000116306,
"gnomad_genomes_af": 0.0000262854,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40299999713897705,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.403,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.937,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001425299.1",
"gene_symbol": "NARS2",
"hgnc_id": 26274,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000716185.1",
"gene_symbol": "ENSG00000288853",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.36-6850G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}