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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: 1-89933372-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=89933372&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 89933372,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018103.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "NM_001134479.2",
"protein_id": "NP_001127951.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337338.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134479.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000337338.9",
"protein_id": "ENSP00000338887.5",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134479.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337338.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000394593.7",
"protein_id": "ENSP00000378093.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394593.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "NM_018103.5",
"protein_id": "NP_060573.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018103.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906496.1",
"protein_id": "ENSP00000576555.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906496.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906497.1",
"protein_id": "ENSP00000576556.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906497.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906498.1",
"protein_id": "ENSP00000576557.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906498.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906499.1",
"protein_id": "ENSP00000576558.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906499.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906500.1",
"protein_id": "ENSP00000576559.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906500.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906501.1",
"protein_id": "ENSP00000576560.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906501.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906502.1",
"protein_id": "ENSP00000576561.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906502.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906503.1",
"protein_id": "ENSP00000576562.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906503.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906504.1",
"protein_id": "ENSP00000576563.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906504.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906505.1",
"protein_id": "ENSP00000576564.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906505.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906506.1",
"protein_id": "ENSP00000576565.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906506.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906507.1",
"protein_id": "ENSP00000576566.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906507.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906508.1",
"protein_id": "ENSP00000576567.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906508.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906509.1",
"protein_id": "ENSP00000576568.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906509.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906510.1",
"protein_id": "ENSP00000576569.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906510.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906512.1",
"protein_id": "ENSP00000576570.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906512.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906513.1",
"protein_id": "ENSP00000576571.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906513.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000906514.1",
"protein_id": "ENSP00000576574.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 858,
"cds_start": 304,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": 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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"transcript": "XM_047423961.1",
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{
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],
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"gene_symbol": "ENSG00000271949",
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"biotype": "nonsense_mediated_decay",
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{
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],
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"gene_symbol": "LRRC8D",
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"biotype": "protein_coding",
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],
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"dbsnp": "rs371401818",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136814,
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"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04684892296791077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0601,
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.181,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018103.5",
"gene_symbol": "LRRC8D",
"hgnc_id": 16992,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.304A>G",
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},
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000370453.5",
"gene_symbol": "ENSG00000271949",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*430A>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}