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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: 5-168486505-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168486505&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168486505,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002887.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "NM_002887.4",
"protein_id": "NP_002878.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 660,
"cds_start": 7,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231572.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002887.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000231572.8",
"protein_id": "ENSP00000231572.3",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 660,
"cds_start": 7,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002887.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231572.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000922755.1",
"protein_id": "ENSP00000592814.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 668,
"cds_start": 7,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922755.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000953515.1",
"protein_id": "ENSP00000623574.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 664,
"cds_start": 7,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953515.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000953514.1",
"protein_id": "ENSP00000623573.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 660,
"cds_start": 7,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953514.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000953512.1",
"protein_id": "ENSP00000623571.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 658,
"cds_start": 7,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953512.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000922756.1",
"protein_id": "ENSP00000592815.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 657,
"cds_start": 7,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922756.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000852518.1",
"protein_id": "ENSP00000522577.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 655,
"cds_start": 7,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852518.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000953517.1",
"protein_id": "ENSP00000623576.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 655,
"cds_start": 7,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953517.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000852519.1",
"protein_id": "ENSP00000522578.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 646,
"cds_start": 7,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852519.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000852517.1",
"protein_id": "ENSP00000522576.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 625,
"cds_start": 7,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852517.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000953513.1",
"protein_id": "ENSP00000623572.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 615,
"cds_start": 7,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953513.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000852521.1",
"protein_id": "ENSP00000522580.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 597,
"cds_start": 7,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852521.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000852520.1",
"protein_id": "ENSP00000522579.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 552,
"cds_start": 7,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852520.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000953516.1",
"protein_id": "ENSP00000623575.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 482,
"cds_start": 7,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953516.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000922757.1",
"protein_id": "ENSP00000592816.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 450,
"cds_start": 7,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922757.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000922754.1",
"protein_id": "ENSP00000592813.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 401,
"cds_start": 7,
"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": "ENST00000922754.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000922758.1",
"protein_id": "ENSP00000592817.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 369,
"cds_start": 7,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922758.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000922759.1",
"protein_id": "ENSP00000592818.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 299,
"cds_start": 7,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922759.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile",
"transcript": "ENST00000626454.1",
"protein_id": "ENSP00000486284.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 58,
"cds_start": 7,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "n.7G>A",
"hgvs_p": null,
"transcript": "ENST00000520013.5",
"protein_id": "ENSP00000429030.1",
"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": "ENST00000520013.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "n.7G>A",
"hgvs_p": null,
"transcript": "ENST00000521329.5",
"protein_id": "ENSP00000428494.1",
"transcript_support_level": 4,
"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": "ENST00000521329.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "RARS1",
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"hgvs_c": "n.20G>A",
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"transcript": "ENST00000521939.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521939.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "n.7G>A",
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"transcript": "ENST00000522834.5",
"protein_id": "ENSP00000430035.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522834.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"hgvs_c": "n.55G>A",
"hgvs_p": null,
"transcript": "ENST00000524082.5",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524082.5"
}
],
"gene_symbol": "RARS1",
"gene_hgnc_id": 9870,
"dbsnp": "rs244903",
"frequency_reference_population": 0.5725926,
"hom_count_reference_population": 260198,
"allele_count_reference_population": 892105,
"gnomad_exomes_af": 0.566591,
"gnomad_genomes_af": 0.628097,
"gnomad_exomes_ac": 796618,
"gnomad_genomes_ac": 95487,
"gnomad_exomes_homalt": 229466,
"gnomad_genomes_homalt": 30732,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.688818636277574e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.084,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002887.4",
"gene_symbol": "RARS1",
"hgnc_id": 9870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Val3Ile"
}
],
"clinvar_disease": "Hypomyelinating leukodystrophy 9,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|Hypomyelinating leukodystrophy 9",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}