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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: 19-12763338-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12763338&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12763338,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001400041.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Arg702Cys",
"transcript": "NM_013312.3",
"protein_id": "NP_037444.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 719,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397668.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013312.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Arg702Cys",
"transcript": "ENST00000397668.8",
"protein_id": "ENSP00000380785.2",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 719,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013312.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397668.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Cys",
"transcript": "ENST00000264827.9",
"protein_id": "ENSP00000264827.4",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 717,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264827.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2392C>T",
"hgvs_p": "p.Arg798Cys",
"transcript": "ENST00000894580.1",
"protein_id": "ENSP00000564639.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 815,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894580.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Arg762Cys",
"transcript": "ENST00000894575.1",
"protein_id": "ENSP00000564634.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 779,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894575.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Cys",
"transcript": "ENST00000894576.1",
"protein_id": "ENSP00000564635.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 778,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894576.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2206C>T",
"hgvs_p": "p.Arg736Cys",
"transcript": "NM_001400041.1",
"protein_id": "NP_001386970.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 753,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400041.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Arg706Cys",
"transcript": "ENST00000914424.1",
"protein_id": "ENSP00000584483.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 723,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914424.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Cys",
"transcript": "NM_001100176.2",
"protein_id": "NP_001093646.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 717,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100176.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Cys",
"transcript": "ENST00000894574.1",
"protein_id": "ENSP00000564633.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 716,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894574.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.Arg698Cys",
"transcript": "ENST00000894579.1",
"protein_id": "ENSP00000564638.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 715,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894579.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.Arg698Cys",
"transcript": "ENST00000961673.1",
"protein_id": "ENSP00000631732.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 715,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961673.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2089C>T",
"hgvs_p": "p.Arg697Cys",
"transcript": "ENST00000961672.1",
"protein_id": "ENSP00000631731.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 714,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961672.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2083C>T",
"hgvs_p": "p.Arg695Cys",
"transcript": "ENST00000894578.1",
"protein_id": "ENSP00000564637.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2080C>T",
"hgvs_p": "p.Arg694Cys",
"transcript": "ENST00000914426.1",
"protein_id": "ENSP00000584485.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 711,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914426.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2080C>T",
"hgvs_p": "p.Arg694Cys",
"transcript": "ENST00000961674.1",
"protein_id": "ENSP00000631733.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 711,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961674.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2038C>T",
"hgvs_p": "p.Arg680Cys",
"transcript": "ENST00000961675.1",
"protein_id": "ENSP00000631734.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 697,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961675.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2029C>T",
"hgvs_p": "p.Arg677Cys",
"transcript": "ENST00000894581.1",
"protein_id": "ENSP00000564640.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 694,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894581.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2017C>T",
"hgvs_p": "p.Arg673Cys",
"transcript": "ENST00000914425.1",
"protein_id": "ENSP00000584484.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 690,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914425.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663Cys",
"transcript": "ENST00000894577.1",
"protein_id": "ENSP00000564636.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 680,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894577.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Arg627Cys",
"transcript": "NM_001400043.1",
"protein_id": "NP_001386972.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 644,
"cds_start": 1879,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400043.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Arg627Cys",
"transcript": "NM_001400044.1",
"protein_id": "NP_001386973.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 644,
"cds_start": 1879,
"cds_end": null,
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"feature": "NM_001400044.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
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},
{
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],
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"biotype": "protein_coding",
"feature": "NM_001400046.1"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 22,
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"gene_symbol": "HOOK2",
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"hgvs_c": "c.1879C>T",
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"transcript": "NM_001400047.1",
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"biotype": "protein_coding",
"feature": "NM_001400047.1"
},
{
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "HOOK2",
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"transcript": "NM_001400048.1",
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"feature": "NM_001400048.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "HOOK2",
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"transcript": "ENST00000678590.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678590.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "HOOK2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678590.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "n.*25C>T",
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"transcript": "ENST00000589915.1",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589915.1"
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],
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"dbsnp": "rs371657591",
"frequency_reference_population": 0.00004522846,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000465179,
"gnomad_genomes_af": 0.0000328459,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7149221301078796,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.243,
"revel_prediction": "Benign",
"alphamissense_score": 0.2819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.828,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001400041.1",
"gene_symbol": "HOOK2",
"hgnc_id": 19885,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2206C>T",
"hgvs_p": "p.Arg736Cys"
}
],
"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
}