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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: 7-122353404-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122353404&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122353404,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001363389.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3504+7384T>C",
"hgvs_p": null,
"transcript": "NM_017954.11",
"protein_id": "NP_060424.9",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": null,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": "ENST00000449022.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017954.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3504+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000449022.7",
"protein_id": "ENSP00000398481.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": null,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": "NM_017954.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449022.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3381+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000412584.6",
"protein_id": "ENSP00000400401.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1255,
"cds_start": null,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412584.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3540+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363389.2",
"protein_id": "NP_001350318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": null,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3525+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363390.2",
"protein_id": "NP_001350319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": null,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363390.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3522+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000951082.1",
"protein_id": "ENSP00000621141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1302,
"cds_start": null,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3516+7384T>C",
"hgvs_p": null,
"transcript": "NM_001167940.2",
"protein_id": "NP_001161412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": null,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167940.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3516+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363391.2",
"protein_id": "NP_001350320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": null,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363391.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3501+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000951078.1",
"protein_id": "ENSP00000621137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": null,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3486+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000870413.1",
"protein_id": "ENSP00000540472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1290,
"cds_start": null,
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"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870413.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3468+7526T>C",
"hgvs_p": null,
"transcript": "ENST00000951090.1",
"protein_id": "ENSP00000621149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1284,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000951090.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3453+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000951089.1",
"protein_id": "ENSP00000621148.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000951089.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
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"hgvs_c": "c.3420+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363392.2",
"protein_id": "NP_001350321.1",
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"aa_start": null,
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"cdna_start": null,
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"feature": "NM_001363392.2"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 27,
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.3405+7384T>C",
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"transcript": "NM_001363393.2",
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"biotype": "protein_coding",
"feature": "NM_001363393.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3402+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000951079.1",
"protein_id": "ENSP00000621138.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000951079.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
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"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3396+7384T>C",
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"transcript": "NM_001363394.2",
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"biotype": "protein_coding",
"feature": "NM_001363394.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3387+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363395.2",
"protein_id": "NP_001350324.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001363395.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3387+7384T>C",
"hgvs_p": null,
"transcript": "ENST00000870411.1",
"protein_id": "ENSP00000540470.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 26,
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"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3384+7384T>C",
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"transcript": "NM_001363396.2",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"exon_count": 28,
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"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3381+7384T>C",
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"transcript": "NM_001009571.4",
"protein_id": "NP_001009571.2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3375+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363397.2",
"protein_id": "NP_001350326.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363397.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.3366+7384T>C",
"hgvs_p": null,
"transcript": "NM_001363398.2",
"protein_id": "NP_001350327.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1250,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 5630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363398.2"
},
{
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"canonical": false,
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{
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{
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],
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"gnomad_genomes_ac": 119162,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000482375.5",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}