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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: 2-54974736-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54974736&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54974736,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020532.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.3389A>G",
"hgvs_p": "p.Tyr1130Cys",
"transcript": "NM_020532.5",
"protein_id": "NP_065393.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3389,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": "ENST00000337526.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020532.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.3389A>G",
"hgvs_p": "p.Tyr1130Cys",
"transcript": "ENST00000337526.11",
"protein_id": "ENSP00000337838.6",
"transcript_support_level": 1,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3389,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": "NM_020532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337526.11"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "ENST00000357376.7",
"protein_id": "ENSP00000349944.3",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357376.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "ENST00000394611.6",
"protein_id": "ENSP00000378109.2",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394611.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "ENST00000404909.5",
"protein_id": "ENSP00000385650.1",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2945,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404909.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "ENST00000405240.5",
"protein_id": "ENSP00000384471.1",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405240.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.989A>G",
"hgvs_p": "p.Tyr330Cys",
"transcript": "ENST00000357732.8",
"protein_id": "ENSP00000350365.4",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 392,
"cds_start": 989,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357732.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "ENST00000317610.11",
"protein_id": "ENSP00000322147.7",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 373,
"cds_start": 932,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317610.11"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Tyr137Cys",
"transcript": "ENST00000394609.6",
"protein_id": "ENSP00000378107.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 199,
"cds_start": 410,
"cds_end": null,
"cds_length": 600,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394609.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_001321859.2",
"protein_id": "NP_001308788.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321859.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_001321860.1",
"protein_id": "NP_001308789.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321860.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_001321861.2",
"protein_id": "NP_001308790.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321861.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_001321862.2",
"protein_id": "NP_001308791.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321862.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_001321863.2",
"protein_id": "NP_001308792.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321863.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_001321904.2",
"protein_id": "NP_001308833.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 3382,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321904.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Tyr924Cys",
"transcript": "NM_207521.2",
"protein_id": "NP_997404.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 986,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207521.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Tyr851Cys",
"transcript": "ENST00000938587.1",
"protein_id": "ENSP00000608646.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 913,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938587.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000951906.1",
"protein_id": "ENSP00000621965.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 440,
"cds_start": 1133,
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"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951906.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Tyr339Cys",
"transcript": "ENST00000852508.1",
"protein_id": "ENSP00000522567.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 401,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852508.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.989A>G",
"hgvs_p": "p.Tyr330Cys",
"transcript": "NM_207520.2",
"protein_id": "NP_997403.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 392,
"cds_start": 989,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207520.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "NM_153828.3",
"protein_id": "NP_722550.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 373,
"cds_start": 932,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153828.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RTN4",
"gene_hgnc_id": 14085,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "ENST00000852509.1",
"protein_id": "ENSP00000522568.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 371,
"cds_start": 932,
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"cdna_start": 1075,
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"biotype": "protein_coding",
"feature": "ENST00000852509.1"
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4",
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"hgvs_c": "c.458A>G",
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"protein_id": "ENSP00000397808.1",
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"biotype": "protein_coding",
"feature": "ENST00000438462.1"
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 7,
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"gene_symbol": "RTN4",
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"hgvs_c": "c.410A>G",
"hgvs_p": "p.Tyr137Cys",
"transcript": "NM_007008.3",
"protein_id": "NP_008939.1",
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"cds_length": 600,
"cdna_start": 562,
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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,
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"gene_symbol": "RTN4",
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"hgvs_c": "c.283-1115A>G",
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"transcript": "ENST00000486085.5",
"protein_id": "ENSP00000489133.1",
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"aa_end": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486085.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
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"gene_symbol": "RTN4",
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"hgvs_c": "n.510A>G",
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"transcript": "NR_135829.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135829.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "RTN4",
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"hgvs_c": "n.454A>G",
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"transcript": "NR_135830.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135830.2"
}
],
"gene_symbol": "RTN4",
"gene_hgnc_id": 14085,
"dbsnp": "rs201476146",
"frequency_reference_population": 0.000059484493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000615726,
"gnomad_genomes_af": 0.0000394275,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9070919752120972,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.647,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8898,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.888,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020532.5",
"gene_symbol": "RTN4",
"hgnc_id": 14085,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3389A>G",
"hgvs_p": "p.Tyr1130Cys"
}
],
"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
}