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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: 3-69064073-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69064073&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69064073,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003968.4",
"consequences": [
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "NM_003968.4",
"protein_id": "NP_003959.3",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 463,
"cds_start": 467,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "ENST00000361055.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003968.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000361055.9",
"protein_id": "ENSP00000354340.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 463,
"cds_start": 467,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "NM_003968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361055.9"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000854662.1",
"protein_id": "ENSP00000524721.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 468,
"cds_start": 467,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854662.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000854663.1",
"protein_id": "ENSP00000524722.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 462,
"cds_start": 467,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854663.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Tyr145Cys",
"transcript": "ENST00000854668.1",
"protein_id": "ENSP00000524727.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 452,
"cds_start": 434,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854668.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "NM_198195.2",
"protein_id": "NP_937838.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 449,
"cds_start": 425,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198195.2"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "ENST00000349511.8",
"protein_id": "ENSP00000340041.4",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 449,
"cds_start": 425,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349511.8"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000854661.1",
"protein_id": "ENSP00000524720.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 449,
"cds_start": 467,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854661.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "ENST00000854660.1",
"protein_id": "ENSP00000524719.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 448,
"cds_start": 425,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854660.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000968751.1",
"protein_id": "ENSP00000638810.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 445,
"cds_start": 467,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968751.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000854659.1",
"protein_id": "ENSP00000524718.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 436,
"cds_start": 386,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854659.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000931269.1",
"protein_id": "ENSP00000601328.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 436,
"cds_start": 467,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931269.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000968749.1",
"protein_id": "ENSP00000638808.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 436,
"cds_start": 386,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968749.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "ENST00000854666.1",
"protein_id": "ENSP00000524725.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 435,
"cds_start": 425,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854666.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Tyr142Cys",
"transcript": "ENST00000968753.1",
"protein_id": "ENSP00000638812.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 431,
"cds_start": 425,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968753.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Tyr115Cys",
"transcript": "NM_001363861.1",
"protein_id": "NP_001350790.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 422,
"cds_start": 344,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363861.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Tyr115Cys",
"transcript": "ENST00000415609.6",
"protein_id": "ENSP00000400294.2",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 422,
"cds_start": 344,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415609.6"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000968747.1",
"protein_id": "ENSP00000638806.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 422,
"cds_start": 386,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968747.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Tyr115Cys",
"transcript": "ENST00000968752.1",
"protein_id": "ENSP00000638811.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 421,
"cds_start": 344,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968752.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000854667.1",
"protein_id": "ENSP00000524726.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 411,
"cds_start": 467,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854667.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Tyr102Cys",
"transcript": "ENST00000968750.1",
"protein_id": "ENSP00000638809.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 409,
"cds_start": 305,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968750.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Tyr156Cys",
"transcript": "ENST00000968748.1",
"protein_id": "ENSP00000638807.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 408,
"cds_start": 467,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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],
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{
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],
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{
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],
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{
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],
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"biotype": "nonsense_mediated_decay",
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{
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"strand": false,
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],
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"gene_symbol": "UBA3",
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"transcript": "ENST00000465627.5",
"protein_id": "ENSP00000419077.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465627.5"
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],
"gene_symbol": "UBA3",
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"dbsnp": "rs758067399",
"frequency_reference_population": 0.00016839868,
"hom_count_reference_population": 0,
"allele_count_reference_population": 270,
"gnomad_exomes_af": 0.000182619,
"gnomad_genomes_af": 0.0000328455,
"gnomad_exomes_ac": 265,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8470935821533203,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.534,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.219,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003968.4",
"gene_symbol": "UBA3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.467A>G",
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],
"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
}