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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: 17-50655875-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50655875&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50655875,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003786.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "NM_003786.4",
"protein_id": "NP_003777.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1527,
"cds_start": 89,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285238.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003786.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000285238.13",
"protein_id": "ENSP00000285238.8",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 1527,
"cds_start": 89,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003786.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285238.13"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000427699.5",
"protein_id": "ENSP00000395160.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 572,
"cds_start": 89,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427699.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871907.1",
"protein_id": "ENSP00000541966.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1562,
"cds_start": 89,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871907.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871903.1",
"protein_id": "ENSP00000541962.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1553,
"cds_start": 89,
"cds_end": null,
"cds_length": 4662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871903.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871896.1",
"protein_id": "ENSP00000541955.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1543,
"cds_start": 89,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871896.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871905.1",
"protein_id": "ENSP00000541964.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1531,
"cds_start": 89,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871905.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871892.1",
"protein_id": "ENSP00000541951.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1527,
"cds_start": 89,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871892.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871904.1",
"protein_id": "ENSP00000541963.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1518,
"cds_start": 89,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871904.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871895.1",
"protein_id": "ENSP00000541954.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1510,
"cds_start": 89,
"cds_end": null,
"cds_length": 4533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871895.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000941185.1",
"protein_id": "ENSP00000611244.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1485,
"cds_start": 89,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941185.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871897.1",
"protein_id": "ENSP00000541956.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1481,
"cds_start": 89,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871897.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871901.1",
"protein_id": "ENSP00000541960.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1471,
"cds_start": 89,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871901.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000871893.1",
"protein_id": "ENSP00000541952.1",
"transcript_support_level": null,
"aa_start": 30,
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"cds_start": 89,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871893.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000941182.1",
"protein_id": "ENSP00000611241.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1463,
"cds_start": 89,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941182.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000941184.1",
"protein_id": "ENSP00000611243.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1422,
"cds_start": 89,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941184.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000941186.1",
"protein_id": "ENSP00000611245.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1419,
"cds_start": 89,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941186.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "ENST00000941188.1",
"protein_id": "ENSP00000611247.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 1337,
"cds_start": 89,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941188.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Pro30Leu",
"transcript": "NM_001144070.2",
"protein_id": "NP_001137542.1",
"transcript_support_level": null,
"aa_start": 30,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144070.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.46-11C>T",
"hgvs_p": null,
"transcript": "ENST00000871898.1",
"protein_id": "ENSP00000541957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "ENST00000871898.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.46-827C>T",
"hgvs_p": null,
"transcript": "ENST00000871894.1",
"protein_id": "ENSP00000541953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1468,
"cds_start": null,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871894.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC3",
"gene_hgnc_id": 54,
"hgvs_c": "c.46-11C>T",
"hgvs_p": null,
"transcript": "ENST00000871899.1",
"protein_id": "ENSP00000541958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": null,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871899.1"
},
{
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{
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],
"gene_symbol": "ABCC3",
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"dbsnp": "rs759174103",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4073689579963684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3400000035762787,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.355,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.4,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.34,
"spliceai_max_prediction": "Uncertain_significance",
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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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_003786.4",
"gene_symbol": "ABCC3",
"hgnc_id": 54,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro30Leu"
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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
}