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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: 2-71072728-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71072728&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71072728,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017567.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "NM_017567.6",
"protein_id": "NP_060037.4",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 344,
"cds_start": 443,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244204.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017567.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "ENST00000244204.11",
"protein_id": "ENSP00000244204.5",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 344,
"cds_start": 443,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017567.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244204.11"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.His194Arg",
"transcript": "ENST00000455662.6",
"protein_id": "ENSP00000389087.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 390,
"cds_start": 581,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455662.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.His194Arg",
"transcript": "ENST00000613852.4",
"protein_id": "ENSP00000477639.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 390,
"cds_start": 581,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613852.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "ENST00000951785.1",
"protein_id": "ENSP00000621844.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 342,
"cds_start": 443,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951785.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "ENST00000443938.6",
"protein_id": "ENSP00000411846.3",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 340,
"cds_start": 443,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443938.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "ENST00000868350.1",
"protein_id": "ENSP00000538409.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 332,
"cds_start": 443,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868350.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.His97Arg",
"transcript": "NM_001330425.3",
"protein_id": "NP_001317354.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 293,
"cds_start": 290,
"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_001330425.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.His97Arg",
"transcript": "NM_001330426.2",
"protein_id": "NP_001317355.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 293,
"cds_start": 290,
"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_001330426.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.His97Arg",
"transcript": "NM_001365466.2",
"protein_id": "NP_001352395.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 293,
"cds_start": 290,
"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_001365466.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.His97Arg",
"transcript": "ENST00000418807.7",
"protein_id": "ENSP00000396070.3",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 293,
"cds_start": 290,
"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": "ENST00000418807.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000529236.1",
"protein_id": "ENSP00000431204.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 136,
"cds_start": 125,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529236.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "XM_017004440.2",
"protein_id": "XP_016859929.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 217,
"cds_start": 443,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004440.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.-2A>G",
"hgvs_p": null,
"transcript": "ENST00000443872.6",
"protein_id": "ENSP00000404531.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443872.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.-2A>G",
"hgvs_p": null,
"transcript": "ENST00000531934.5",
"protein_id": "ENSP00000436326.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531934.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.356-754A>G",
"hgvs_p": null,
"transcript": "ENST00000868351.1",
"protein_id": "ENSP00000538410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "c.214-735A>G",
"hgvs_p": null,
"transcript": "ENST00000936945.1",
"protein_id": "ENSP00000607004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.476A>G",
"hgvs_p": null,
"transcript": "ENST00000428360.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000428360.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "ENST00000450272.5",
"protein_id": "ENSP00000400941.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000450272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.*217A>G",
"hgvs_p": null,
"transcript": "ENST00000455197.5",
"protein_id": "ENSP00000408550.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000455197.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.462A>G",
"hgvs_p": null,
"transcript": "ENST00000472519.5",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGK",
"gene_hgnc_id": 17174,
"hgvs_c": "n.2266A>G",
"hgvs_p": null,
"transcript": "ENST00000475709.5",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475709.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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{
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{
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"feature": "ENST00000489309.5"
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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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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "NAGK",
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"transcript": "ENST00000533981.5",
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"biotype": "protein_coding",
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],
"gene_symbol": "NAGK",
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"dbsnp": "rs763606034",
"frequency_reference_population": 0.000009294728,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889411,
"gnomad_genomes_af": 0.0000131427,
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8724093437194824,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.609,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.846,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017567.6",
"gene_symbol": "NAGK",
"hgnc_id": 17174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg"
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],
"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
}