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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: 5-6599930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=6599930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 6599930,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017755.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2300G>A",
"hgvs_p": "p.Arg767Gln",
"transcript": "NM_017755.6",
"protein_id": "NP_060225.4",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 767,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264670.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017755.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2300G>A",
"hgvs_p": "p.Arg767Gln",
"transcript": "ENST00000264670.11",
"protein_id": "ENSP00000264670.6",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 767,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017755.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264670.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "n.2869G>A",
"hgvs_p": null,
"transcript": "ENST00000505892.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000505892.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2324G>A",
"hgvs_p": "p.Arg775Gln",
"transcript": "ENST00000902915.1",
"protein_id": "ENSP00000572974.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 775,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902915.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln",
"transcript": "ENST00000939214.1",
"protein_id": "ENSP00000609273.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 774,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939214.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2294G>A",
"hgvs_p": "p.Arg765Gln",
"transcript": "ENST00000939216.1",
"protein_id": "ENSP00000609275.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 765,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939216.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2282G>A",
"hgvs_p": "p.Arg761Gln",
"transcript": "ENST00000902922.1",
"protein_id": "ENSP00000572981.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 761,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902922.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2282G>A",
"hgvs_p": "p.Arg761Gln",
"transcript": "ENST00000940950.1",
"protein_id": "ENSP00000611009.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 761,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940950.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756Gln",
"transcript": "ENST00000902914.1",
"protein_id": "ENSP00000572973.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 756,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902914.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2216G>A",
"hgvs_p": "p.Arg739Gln",
"transcript": "ENST00000902920.1",
"protein_id": "ENSP00000572979.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 739,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902920.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2207G>A",
"hgvs_p": "p.Arg736Gln",
"transcript": "ENST00000902913.1",
"protein_id": "ENSP00000572972.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 736,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902913.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2195G>A",
"hgvs_p": "p.Arg732Gln",
"transcript": "NM_001193455.2",
"protein_id": "NP_001180384.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 732,
"cds_start": 2195,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193455.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2195G>A",
"hgvs_p": "p.Arg732Gln",
"transcript": "ENST00000506139.5",
"protein_id": "ENSP00000420957.1",
"transcript_support_level": 2,
"aa_start": 732,
"aa_end": null,
"aa_length": 732,
"cds_start": 2195,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506139.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2189G>A",
"hgvs_p": "p.Arg730Gln",
"transcript": "ENST00000939217.1",
"protein_id": "ENSP00000609276.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 730,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939217.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2177G>A",
"hgvs_p": "p.Arg726Gln",
"transcript": "ENST00000939215.1",
"protein_id": "ENSP00000609274.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 726,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939215.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721Gln",
"transcript": "ENST00000902918.1",
"protein_id": "ENSP00000572977.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 721,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902918.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629Gln",
"transcript": "ENST00000902917.1",
"protein_id": "ENSP00000572976.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 629,
"cds_start": 1886,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902917.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580Gln",
"transcript": "ENST00000902916.1",
"protein_id": "ENSP00000572975.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 580,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902916.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "ENST00000902921.1",
"protein_id": "ENSP00000572980.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 555,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902921.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "c.1658G>A",
"hgvs_p": "p.Arg553Gln",
"transcript": "ENST00000902919.1",
"protein_id": "ENSP00000572978.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 553,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "n.*1606G>A",
"hgvs_p": null,
"transcript": "ENST00000504374.5",
"protein_id": "ENSP00000421783.1",
"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": "ENST00000504374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "n.760G>A",
"hgvs_p": null,
"transcript": "ENST00000513888.5",
"protein_id": null,
"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,
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"biotype": "retained_intron",
"feature": "ENST00000513888.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
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"exon_count": 18,
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"biotype": "pseudogene",
"feature": "NR_037947.2"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "NSUN2",
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"hgvs_c": "n.*1606G>A",
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"transcript": "ENST00000504374.5",
"protein_id": "ENSP00000421783.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504374.5"
},
{
"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": "LINC01018",
"gene_hgnc_id": 27394,
"hgvs_c": "n.775-191C>T",
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"transcript": "ENST00000661215.2",
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661215.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINC01018",
"gene_hgnc_id": 27394,
"hgvs_c": "n.571-191C>T",
"hgvs_p": null,
"transcript": "ENST00000669289.1",
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"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": "pseudogene",
"feature": "ENST00000669289.1"
},
{
"aa_ref": null,
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"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": "LINC01018",
"gene_hgnc_id": 27394,
"hgvs_c": "n.720-13640C>T",
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"transcript": "ENST00000752507.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000752507.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"hgvs_c": "n.*406G>A",
"hgvs_p": null,
"transcript": "ENST00000514127.1",
"protein_id": "ENSP00000426459.1",
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"aa_start": null,
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"aa_length": null,
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"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": "ENST00000514127.1"
}
],
"gene_symbol": "NSUN2",
"gene_hgnc_id": 25994,
"dbsnp": "rs140673211",
"frequency_reference_population": 0.0052863485,
"hom_count_reference_population": 29,
"allele_count_reference_population": 8523,
"gnomad_exomes_af": 0.00546669,
"gnomad_genomes_af": 0.00355797,
"gnomad_exomes_ac": 7981,
"gnomad_genomes_ac": 542,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006454586982727051,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.77,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017755.6",
"gene_symbol": "NSUN2",
"hgnc_id": 25994,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2300G>A",
"hgvs_p": "p.Arg767Gln"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000661215.2",
"gene_symbol": "LINC01018",
"hgnc_id": 27394,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.775-191C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive 5,Inborn genetic diseases,Intellectual disability,NSUN2-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:6",
"phenotype_combined": "not specified|Intellectual disability, autosomal recessive 5|not provided|Inborn genetic diseases|NSUN2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}