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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: X-47198856-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47198856&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47198856,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440807.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "NM_003334.4",
"protein_id": "NP_003325.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "ENST00000335972.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003334.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000335972.11",
"protein_id": "ENSP00000338413.6",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "NM_003334.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335972.11"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000377351.8",
"protein_id": "ENSP00000366568.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377351.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880189.1",
"protein_id": "ENSP00000550248.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1103,
"cds_start": 54,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880189.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880195.1",
"protein_id": "ENSP00000550254.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1086,
"cds_start": 54,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880195.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.96G>T",
"hgvs_p": "p.Lys32Asn",
"transcript": "NM_001440807.1",
"protein_id": "NP_001427736.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 1072,
"cds_start": 96,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440807.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000940362.1",
"protein_id": "ENSP00000610421.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1071,
"cds_start": 54,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940362.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000940379.1",
"protein_id": "ENSP00000610438.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1071,
"cds_start": 54,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940379.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.72G>T",
"hgvs_p": "p.Lys24Asn",
"transcript": "NM_001440809.1",
"protein_id": "NP_001427738.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 1064,
"cds_start": 72,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440809.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.72G>T",
"hgvs_p": "p.Lys24Asn",
"transcript": "NM_001440810.1",
"protein_id": "NP_001427739.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 1064,
"cds_start": 72,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440810.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000940386.1",
"protein_id": "ENSP00000610445.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1060,
"cds_start": 54,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940386.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "NM_001440811.1",
"protein_id": "NP_001427740.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440811.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "NM_001440812.1",
"protein_id": "NP_001427741.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440812.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "NM_153280.3",
"protein_id": "NP_695012.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153280.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880170.1",
"protein_id": "ENSP00000550229.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 107,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880170.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880171.1",
"protein_id": "ENSP00000550230.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880171.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880172.1",
"protein_id": "ENSP00000550231.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880172.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880173.1",
"protein_id": "ENSP00000550232.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880173.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880174.1",
"protein_id": "ENSP00000550233.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880174.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880175.1",
"protein_id": "ENSP00000550234.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880175.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880176.1",
"protein_id": "ENSP00000550235.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880176.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "ENST00000880178.1",
"protein_id": "ENSP00000550237.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1058,
"cds_start": 54,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 412,
"cdna_end": null,
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"mane_plus": null,
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},
{
"aa_ref": "K",
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"protein_coding": true,
"strand": true,
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"missense_variant"
],
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"gene_symbol": "UBA1",
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"biotype": "protein_coding",
"feature": "XM_047442424.1"
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"gene_symbol": "UBA1",
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"hgvs_c": "c.54G>T",
"hgvs_p": "p.Lys18Asn",
"transcript": "XM_047442425.1",
"protein_id": "XP_047298381.1",
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"cdna_start": 101,
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"cdna_length": 3423,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442425.1"
}
],
"gene_symbol": "UBA1",
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"dbsnp": "rs1210505561",
"frequency_reference_population": 0.00001569541,
"hom_count_reference_population": 6,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000163895,
"gnomad_genomes_af": 0.00000890638,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1942480206489563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.3907,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.989,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001440807.1",
"gene_symbol": "UBA1",
"hgnc_id": 12469,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.96G>T",
"hgvs_p": "p.Lys32Asn"
}
],
"clinvar_disease": "Infantile-onset X-linked spinal muscular atrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Infantile-onset X-linked spinal muscular atrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}