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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: 2-54973828-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54973828&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54973828,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020532.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.3470G>A",
"hgvs_p": "p.Arg1157Gln",
"transcript": "NM_020532.5",
"protein_id": "NP_065393.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337526.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020532.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.3470G>A",
"hgvs_p": "p.Arg1157Gln",
"transcript": "ENST00000337526.11",
"protein_id": "ENSP00000337838.6",
"transcript_support_level": 1,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3470,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337526.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "ENST00000357376.7",
"protein_id": "ENSP00000349944.3",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357376.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "ENST00000394611.6",
"protein_id": "ENSP00000378109.2",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394611.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "ENST00000404909.5",
"protein_id": "ENSP00000385650.1",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404909.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "ENST00000405240.5",
"protein_id": "ENSP00000384471.1",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405240.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357Gln",
"transcript": "ENST00000357732.8",
"protein_id": "ENSP00000350365.4",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 392,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357732.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000317610.11",
"protein_id": "ENSP00000322147.7",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 373,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317610.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164Gln",
"transcript": "ENST00000394609.6",
"protein_id": "ENSP00000378107.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 199,
"cds_start": 491,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394609.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001321859.2",
"protein_id": "NP_001308788.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321859.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001321860.1",
"protein_id": "NP_001308789.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321860.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001321861.2",
"protein_id": "NP_001308790.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321861.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001321862.2",
"protein_id": "NP_001308791.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321862.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001321863.2",
"protein_id": "NP_001308792.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321863.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001321904.2",
"protein_id": "NP_001308833.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321904.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_207521.2",
"protein_id": "NP_997404.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 986,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207521.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2633G>A",
"hgvs_p": "p.Arg878Gln",
"transcript": "ENST00000938587.1",
"protein_id": "ENSP00000608646.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 913,
"cds_start": 2633,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938587.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"transcript": "ENST00000951906.1",
"protein_id": "ENSP00000621965.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 440,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951906.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Gln",
"transcript": "ENST00000852508.1",
"protein_id": "ENSP00000522567.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 401,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852508.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357Gln",
"transcript": "NM_207520.2",
"protein_id": "NP_997403.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 392,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207520.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "NM_153828.3",
"protein_id": "NP_722550.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 373,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153828.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000852509.1",
"protein_id": "ENSP00000522568.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
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"feature": "ENST00000852509.1"
},
{
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"protein_coding": true,
"strand": false,
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],
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},
{
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],
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"gene_symbol": "RTN4",
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"hgvs_c": "c.491G>A",
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"transcript": "NM_007008.3",
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"cds_start": 491,
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"cds_length": 600,
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"biotype": "protein_coding",
"feature": "NM_007008.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "RTN4",
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"hgvs_c": "c.283-207G>A",
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"transcript": "ENST00000486085.5",
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"biotype": "protein_coding",
"feature": "ENST00000486085.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "RTN4",
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"biotype": "retained_intron",
"feature": "ENST00000485749.1"
},
{
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"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RTN4",
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"transcript": "ENST00000491592.1",
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"biotype": "retained_intron",
"feature": "ENST00000491592.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RTN4",
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"hgvs_c": "n.591G>A",
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"transcript": "NR_135829.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135829.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RTN4",
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"hgvs_c": "n.535G>A",
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"transcript": "NR_135830.2",
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"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": "NR_135830.2"
}
],
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"dbsnp": "rs199865440",
"frequency_reference_population": 0.000010267573,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102676,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3499682545661926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.3308,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.353,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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_020532.5",
"gene_symbol": "RTN4",
"hgnc_id": 14085,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3470G>A",
"hgvs_p": "p.Arg1157Gln"
}
],
"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
}