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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: 8-17286379-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17286379&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17286379,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000324849.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1146A>G",
"hgvs_p": "p.Lys382Lys",
"transcript": "NM_152415.3",
"protein_id": "NP_689628.2",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 397,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "ENST00000324849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1146A>G",
"hgvs_p": "p.Lys382Lys",
"transcript": "ENST00000324849.9",
"protein_id": "ENSP00000318629.4",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 397,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "NM_152415.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Lys357Lys",
"transcript": "ENST00000521829.5",
"protein_id": "ENSP00000429680.1",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1146A>G",
"hgvs_p": "p.Lys382Lys",
"transcript": "NM_001363173.2",
"protein_id": "NP_001350102.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 397,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1128A>G",
"hgvs_p": "p.Lys376Lys",
"transcript": "NM_001363167.1",
"protein_id": "NP_001350096.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 391,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Lys357Lys",
"transcript": "NM_001145152.2",
"protein_id": "NP_001138624.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Lys292Lys",
"transcript": "NM_001363168.1",
"protein_id": "NP_001350097.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 307,
"cds_start": 876,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Lys292Lys",
"transcript": "NM_001363169.1",
"protein_id": "NP_001350098.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 307,
"cds_start": 876,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Lys286Lys",
"transcript": "NM_001363170.1",
"protein_id": "NP_001350099.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 301,
"cds_start": 858,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Lys286Lys",
"transcript": "NM_001363171.1",
"protein_id": "NP_001350100.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 301,
"cds_start": 858,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Lys286Lys",
"transcript": "NM_001363172.2",
"protein_id": "NP_001350101.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 301,
"cds_start": 858,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Lys155Lys",
"transcript": "ENST00000521976.1",
"protein_id": "ENSP00000429858.1",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 170,
"cds_start": 465,
"cds_end": null,
"cds_length": 513,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1146A>G",
"hgvs_p": "p.Lys382Lys",
"transcript": "XM_017013021.3",
"protein_id": "XP_016868510.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 397,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1128A>G",
"hgvs_p": "p.Lys376Lys",
"transcript": "XM_047421354.1",
"protein_id": "XP_047277310.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 391,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "c.1053A>G",
"hgvs_p": "p.Lys351Lys",
"transcript": "XM_047421355.1",
"protein_id": "XP_047277311.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 366,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.*693A>G",
"hgvs_p": null,
"transcript": "ENST00000425020.6",
"protein_id": "ENSP00000412824.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.*498A>G",
"hgvs_p": null,
"transcript": "ENST00000520140.5",
"protein_id": "ENSP00000428823.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.1433A>G",
"hgvs_p": null,
"transcript": "XR_007060695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.1433A>G",
"hgvs_p": null,
"transcript": "XR_007060696.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.1433A>G",
"hgvs_p": null,
"transcript": "XR_007060697.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.1433A>G",
"hgvs_p": null,
"transcript": "XR_007060698.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.1433A>G",
"hgvs_p": null,
"transcript": "XR_007060699.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS37A",
"gene_hgnc_id": 24928,
"hgvs_c": "n.1433A>G",
"hgvs_p": null,
"transcript": "XR_007060700.1",
"protein_id": null,
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
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{
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"criteria": [
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"BP7"
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"verdict": "Likely_benign",
"transcript": "ENST00000324849.9",
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"effects": [
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}