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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: 2-218249884-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218249884&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218249884,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005731.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "NM_152862.3",
"protein_id": "NP_690601.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315717.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152862.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000315717.10",
"protein_id": "ENSP00000327137.5",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152862.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315717.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000295685.14",
"protein_id": "ENSP00000295685.10",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295685.14"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000943698.1",
"protein_id": "ENSP00000613757.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 308,
"cds_start": 865,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943698.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284Cys",
"transcript": "ENST00000943696.1",
"protein_id": "ENSP00000613755.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 303,
"cds_start": 850,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943696.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "NM_005731.3",
"protein_id": "NP_005722.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005731.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000856664.1",
"protein_id": "ENSP00000526723.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856664.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000856665.1",
"protein_id": "ENSP00000526724.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856665.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000856666.1",
"protein_id": "ENSP00000526725.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856666.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000856667.1",
"protein_id": "ENSP00000526726.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856667.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000856673.1",
"protein_id": "ENSP00000526732.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856673.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys",
"transcript": "ENST00000943697.1",
"protein_id": "ENSP00000613756.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 300,
"cds_start": 841,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943697.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Cys",
"transcript": "ENST00000912996.1",
"protein_id": "ENSP00000583055.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 299,
"cds_start": 838,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912996.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"transcript": "ENST00000943701.1",
"protein_id": "ENSP00000613760.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 293,
"cds_start": 820,
"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": "ENST00000943701.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Cys",
"transcript": "ENST00000856670.1",
"protein_id": "ENSP00000526729.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 286,
"cds_start": 799,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856670.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000856669.1",
"protein_id": "ENSP00000526728.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 282,
"cds_start": 787,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856669.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000943695.1",
"protein_id": "ENSP00000613754.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 282,
"cds_start": 787,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943695.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000943699.1",
"protein_id": "ENSP00000613758.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 277,
"cds_start": 772,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943699.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"transcript": "ENST00000943700.1",
"protein_id": "ENSP00000613759.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 257,
"cds_start": 712,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943700.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Cys",
"transcript": "ENST00000856668.1",
"protein_id": "ENSP00000526727.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 250,
"cds_start": 691,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856668.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"transcript": "ENST00000856672.1",
"protein_id": "ENSP00000526731.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 247,
"cds_start": 682,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856672.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC2",
"gene_hgnc_id": 705,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000856674.1",
"protein_id": "ENSP00000526733.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 191,
"cds_start": 514,
"cds_end": null,
"cds_length": 576,
"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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"feature": "ENST00000477992.1"
},
{
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],
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"gene_symbol": "ARPC2",
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"transcript": "ENST00000487321.1",
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"biotype": "pseudogene",
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],
"gene_symbol": "ARPC2",
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"dbsnp": "rs1267492794",
"frequency_reference_population": 0.0000095799205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957992,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8490113019943237,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.39,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.021,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005731.3",
"gene_symbol": "ARPC2",
"hgnc_id": 705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Cys"
}
],
"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
}