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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: 2-218245465-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218245465&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218245465,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005731.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "NM_152862.3",
"protein_id": "NP_690601.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315717.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152862.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000315717.10",
"protein_id": "ENSP00000327137.5",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152862.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315717.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000295685.14",
"protein_id": "ENSP00000295685.10",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295685.14"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Leu207Val",
"transcript": "ENST00000943698.1",
"protein_id": "ENSP00000613757.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 308,
"cds_start": 619,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943698.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000943696.1",
"protein_id": "ENSP00000613755.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 303,
"cds_start": 595,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943696.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "NM_005731.3",
"protein_id": "NP_005722.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005731.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000856664.1",
"protein_id": "ENSP00000526723.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856664.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000856665.1",
"protein_id": "ENSP00000526724.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856665.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000856666.1",
"protein_id": "ENSP00000526725.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856666.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000856667.1",
"protein_id": "ENSP00000526726.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856667.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000856673.1",
"protein_id": "ENSP00000526732.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856673.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000943697.1",
"protein_id": "ENSP00000613756.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 595,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943697.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.592C>G",
"hgvs_p": "p.Leu198Val",
"transcript": "ENST00000912996.1",
"protein_id": "ENSP00000583055.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 299,
"cds_start": 592,
"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": "ENST00000912996.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Leu192Val",
"transcript": "ENST00000943701.1",
"protein_id": "ENSP00000613760.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 293,
"cds_start": 574,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943701.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000856670.1",
"protein_id": "ENSP00000526729.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 286,
"cds_start": 553,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856670.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.541C>G",
"hgvs_p": "p.Leu181Val",
"transcript": "ENST00000856669.1",
"protein_id": "ENSP00000526728.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 282,
"cds_start": 541,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856669.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.541C>G",
"hgvs_p": "p.Leu181Val",
"transcript": "ENST00000943695.1",
"protein_id": "ENSP00000613754.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 282,
"cds_start": 541,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943695.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.526C>G",
"hgvs_p": "p.Leu176Val",
"transcript": "ENST00000943699.1",
"protein_id": "ENSP00000613758.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 277,
"cds_start": 526,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943699.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.466C>G",
"hgvs_p": "p.Leu156Val",
"transcript": "ENST00000943700.1",
"protein_id": "ENSP00000613759.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 257,
"cds_start": 466,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943700.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Leu149Val",
"transcript": "ENST00000856668.1",
"protein_id": "ENSP00000526727.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 250,
"cds_start": 445,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856668.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.436C>G",
"hgvs_p": "p.Leu146Val",
"transcript": "ENST00000856672.1",
"protein_id": "ENSP00000526731.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 247,
"cds_start": 436,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856672.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Leu90Val",
"transcript": "ENST00000856674.1",
"protein_id": "ENSP00000526733.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 191,
"cds_start": 268,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856674.1"
},
{
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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": "pseudogene",
"feature": "ENST00000477992.1"
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{
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"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "ARPC2",
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"hgvs_c": "n.*8C>G",
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"transcript": "ENST00000478612.5",
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"biotype": "pseudogene",
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],
"gene_symbol": "ARPC2",
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"dbsnp": "rs1041935451",
"frequency_reference_population": 0.000020445641,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000150492,
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"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9280983209609985,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.939,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"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_005731.3",
"gene_symbol": "ARPC2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val"
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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
}