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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: 11-66871368-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66871368&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66871368,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000393960.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001040716.2",
"protein_id": "NP_001035806.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": "ENST00000393960.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000393960.7",
"protein_id": "ENSP00000377532.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": "NM_001040716.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000393955.6",
"protein_id": "ENSP00000377527.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000393958.7",
"protein_id": "ENSP00000377530.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.290-21303T>G",
"hgvs_p": null,
"transcript": "ENST00000525476.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_000920.4",
"protein_id": "NP_000911.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001439352.1",
"protein_id": "NP_001426281.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001439353.1",
"protein_id": "NP_001426282.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001439355.1",
"protein_id": "NP_001426284.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001439357.1",
"protein_id": "NP_001426286.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001439358.1",
"protein_id": "NP_001426287.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_001439359.1",
"protein_id": "NP_001426288.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "NM_022172.3",
"protein_id": "NP_071504.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000529047.6",
"protein_id": "ENSP00000435905.2",
"transcript_support_level": 3,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
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"cdna_start": 663,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000651036.1",
"protein_id": "ENSP00000498406.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000651854.1",
"protein_id": "ENSP00000498994.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
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"cdna_start": 1685,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000652125.1",
"protein_id": "ENSP00000498302.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000524491.6",
"protein_id": "ENSP00000434192.2",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 529,
"cds_start": 434,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Val105Gly",
"transcript": "ENST00000628663.1",
"protein_id": "ENSP00000486373.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 489,
"cds_start": 314,
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"cdna_start": 314,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": "V",
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "ENST00000528403.6",
"protein_id": "ENSP00000498816.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 482,
"cds_start": 434,
"cds_end": null,
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"cdna_start": 792,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "XM_005274031.5",
"protein_id": "XP_005274088.1",
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"cdna_start": 521,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "XM_005274032.5",
"protein_id": "XP_005274089.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly",
"transcript": "XM_017017869.2",
"protein_id": "XP_016873358.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 1178,
"cds_start": 434,
"cds_end": null,
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{
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},
{
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}
],
"gene_symbol": "PC",
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"dbsnp": "rs28940591",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84225e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.8603944778442383,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.934,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.077,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000393960.7",
"gene_symbol": "PC",
"hgnc_id": 8636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.434T>G",
"hgvs_p": "p.Val145Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}