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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: 6-36748255-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36748255&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36748255,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410887.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asn328Lys",
"transcript": "NM_020939.2",
"protein_id": "NP_065990.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 593,
"cds_start": 984,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244751.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020939.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asn328Lys",
"transcript": "ENST00000244751.7",
"protein_id": "ENSP00000244751.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 593,
"cds_start": 984,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020939.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244751.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Asn36Lys",
"transcript": "ENST00000393189.2",
"protein_id": "ENSP00000376885.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 301,
"cds_start": 108,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393189.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "n.164C>G",
"hgvs_p": null,
"transcript": "ENST00000493411.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493411.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Asn345Lys",
"transcript": "NM_001410887.1",
"protein_id": "NP_001397816.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 610,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410887.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Asn345Lys",
"transcript": "ENST00000633136.2",
"protein_id": "ENSP00000487872.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 610,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633136.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Asn345Lys",
"transcript": "NM_001376889.1",
"protein_id": "NP_001363818.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 553,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376889.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Asn36Lys",
"transcript": "NM_001376895.1",
"protein_id": "NP_001363824.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 361,
"cds_start": 108,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376895.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Asn36Lys",
"transcript": "NM_001314018.2",
"protein_id": "NP_001300947.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 301,
"cds_start": 108,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314018.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Asn36Lys",
"transcript": "NM_001376890.1",
"protein_id": "NP_001363819.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 301,
"cds_start": 108,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376890.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Asn36Lys",
"transcript": "NM_001376894.1",
"protein_id": "NP_001363823.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 293,
"cds_start": 108,
"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": "NM_001376894.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Asn36Lys",
"transcript": "NM_001376891.1",
"protein_id": "NP_001363820.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 244,
"cds_start": 108,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376891.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Asn345Lys",
"transcript": "XM_011514768.2",
"protein_id": "XP_011513070.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 670,
"cds_start": 1035,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514768.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Asn328Lys",
"transcript": "XM_011514769.2",
"protein_id": "XP_011513071.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 653,
"cds_start": 984,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514769.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.921C>G",
"hgvs_p": "p.Asn307Lys",
"transcript": "XM_011514770.2",
"protein_id": "XP_011513072.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 632,
"cds_start": 921,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514770.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.921C>G",
"hgvs_p": "p.Asn307Lys",
"transcript": "XM_011514771.3",
"protein_id": "XP_011513073.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 632,
"cds_start": 921,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514771.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.921C>G",
"hgvs_p": "p.Asn307Lys",
"transcript": "XM_047419190.1",
"protein_id": "XP_047275146.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 632,
"cds_start": 921,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419190.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Asn345Lys",
"transcript": "XM_011514772.1",
"protein_id": "XP_011513074.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 543,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514772.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.591C>G",
"hgvs_p": "p.Asn197Lys",
"transcript": "XM_017011139.3",
"protein_id": "XP_016866628.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 522,
"cds_start": 591,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011139.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.444C>G",
"hgvs_p": "p.Asn148Lys",
"transcript": "XM_011514773.3",
"protein_id": "XP_011513075.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 473,
"cds_start": 444,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514773.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.591C>G",
"hgvs_p": "p.Asn197Lys",
"transcript": "XM_047419191.1",
"protein_id": "XP_047275147.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 462,
"cds_start": 591,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419191.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE5",
"gene_hgnc_id": 2318,
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Thr359Ser",
"transcript": "XM_047419192.1",
"protein_id": "XP_047275148.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 381,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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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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],
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{
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],
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"gene_symbol": "CPNE5",
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"transcript": "XR_007059285.1",
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"biotype": "pseudogene",
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],
"gene_symbol": "CPNE5",
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"dbsnp": "rs780985767",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8305584788322449,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.198,
"revel_prediction": "Benign",
"alphamissense_score": 0.7098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.294,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410887.1",
"gene_symbol": "CPNE5",
"hgnc_id": 2318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Asn345Lys"
}
],
"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
}