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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: 3-69062139-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69062139&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69062139,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003968.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "NM_003968.4",
"protein_id": "NP_003959.3",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 463,
"cds_start": 734,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361055.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003968.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000361055.9",
"protein_id": "ENSP00000354340.4",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 463,
"cds_start": 734,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361055.9"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000854662.1",
"protein_id": "ENSP00000524721.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 468,
"cds_start": 734,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854662.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000854663.1",
"protein_id": "ENSP00000524722.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 462,
"cds_start": 734,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854663.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.701T>G",
"hgvs_p": "p.Leu234Arg",
"transcript": "ENST00000854668.1",
"protein_id": "ENSP00000524727.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 452,
"cds_start": 701,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854668.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.692T>G",
"hgvs_p": "p.Leu231Arg",
"transcript": "NM_198195.2",
"protein_id": "NP_937838.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 449,
"cds_start": 692,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198195.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.692T>G",
"hgvs_p": "p.Leu231Arg",
"transcript": "ENST00000349511.8",
"protein_id": "ENSP00000340041.4",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 449,
"cds_start": 692,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349511.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000854661.1",
"protein_id": "ENSP00000524720.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 449,
"cds_start": 734,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854661.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.692T>G",
"hgvs_p": "p.Leu231Arg",
"transcript": "ENST00000854660.1",
"protein_id": "ENSP00000524719.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 448,
"cds_start": 692,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854660.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000968751.1",
"protein_id": "ENSP00000638810.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 445,
"cds_start": 734,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968751.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000854659.1",
"protein_id": "ENSP00000524718.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 436,
"cds_start": 653,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854659.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000931269.1",
"protein_id": "ENSP00000601328.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 436,
"cds_start": 734,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931269.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000968749.1",
"protein_id": "ENSP00000638808.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 436,
"cds_start": 653,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968749.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.692T>G",
"hgvs_p": "p.Leu231Arg",
"transcript": "ENST00000854666.1",
"protein_id": "ENSP00000524725.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 435,
"cds_start": 692,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854666.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.692T>G",
"hgvs_p": "p.Leu231Arg",
"transcript": "ENST00000968753.1",
"protein_id": "ENSP00000638812.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 431,
"cds_start": 692,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968753.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.611T>G",
"hgvs_p": "p.Leu204Arg",
"transcript": "NM_001363861.1",
"protein_id": "NP_001350790.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 422,
"cds_start": 611,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363861.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.611T>G",
"hgvs_p": "p.Leu204Arg",
"transcript": "ENST00000415609.6",
"protein_id": "ENSP00000400294.2",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 422,
"cds_start": 611,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415609.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.653T>G",
"hgvs_p": "p.Leu218Arg",
"transcript": "ENST00000968747.1",
"protein_id": "ENSP00000638806.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 422,
"cds_start": 653,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968747.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.611T>G",
"hgvs_p": "p.Leu204Arg",
"transcript": "ENST00000968752.1",
"protein_id": "ENSP00000638811.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 421,
"cds_start": 611,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968752.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.578T>G",
"hgvs_p": "p.Leu193Arg",
"transcript": "ENST00000854667.1",
"protein_id": "ENSP00000524726.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 578,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854667.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.572T>G",
"hgvs_p": "p.Leu191Arg",
"transcript": "ENST00000968750.1",
"protein_id": "ENSP00000638809.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 409,
"cds_start": 572,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968750.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg",
"transcript": "ENST00000968748.1",
"protein_id": "ENSP00000638807.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 408,
"cds_start": 734,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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},
{
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"feature": "XM_011534210.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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},
{
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],
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"feature": "ENST00000461934.5"
},
{
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],
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{
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"strand": false,
"consequences": [
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],
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"feature": "ENST00000461934.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "UBA3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465627.5"
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],
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"dbsnp": "rs1036325132",
"frequency_reference_population": 0.00003160474,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000342125,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8017942309379578,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.681,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.266,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003968.4",
"gene_symbol": "UBA3",
"hgnc_id": 12470,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Leu245Arg"
}
],
"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
}