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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: 17-17184566-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17184566&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17184566,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001364716.4",
"consequences": [
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.7207-257T>A",
"hgvs_p": null,
"transcript": "NM_001364716.4",
"protein_id": "NP_001351645.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2425,
"cds_start": null,
"cds_end": null,
"cds_length": 7278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651222.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364716.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.7207-257T>A",
"hgvs_p": null,
"transcript": "ENST00000651222.2",
"protein_id": "ENSP00000498253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2425,
"cds_start": null,
"cds_end": null,
"cds_length": 7278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651222.2"
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.3046-257T>A",
"hgvs_p": null,
"transcript": "ENST00000395811.9",
"protein_id": "ENSP00000379156.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1038,
"cds_start": null,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395811.9"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.2464-257T>A",
"hgvs_p": null,
"transcript": "ENST00000584067.5",
"protein_id": "ENSP00000462688.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": null,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584067.5"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.5311-257T>A",
"hgvs_p": null,
"transcript": "ENST00000313485.10",
"protein_id": "ENSP00000317786.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1793,
"cds_start": null,
"cds_end": null,
"cds_length": 5382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313485.10"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.3286-257T>A",
"hgvs_p": null,
"transcript": "ENST00000948254.1",
"protein_id": "ENSP00000618313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": null,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948254.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.*31-257T>A",
"hgvs_p": null,
"transcript": "ENST00000414263.5",
"protein_id": "ENSP00000412147.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1090,
"cds_start": null,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414263.5"
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.3091-257T>A",
"hgvs_p": null,
"transcript": "ENST00000948255.1",
"protein_id": "ENSP00000618314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1053,
"cds_start": null,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948255.1"
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.3046-257T>A",
"hgvs_p": null,
"transcript": "NM_015134.4",
"protein_id": "NP_055949.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1038,
"cds_start": null,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015134.4"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.*31-257T>A",
"hgvs_p": null,
"transcript": "NM_201274.4",
"protein_id": "NP_958431.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": null,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201274.4"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.*31-257T>A",
"hgvs_p": null,
"transcript": "ENST00000341712.8",
"protein_id": "ENSP00000342379.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": null,
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"cds_length": 3078,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341712.8"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.760-257T>A",
"hgvs_p": null,
"transcript": "ENST00000429184.7",
"protein_id": "ENSP00000411723.3",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 276,
"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": "ENST00000429184.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.384+4478T>A",
"hgvs_p": null,
"transcript": "ENST00000578209.5",
"protein_id": "ENSP00000464276.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 180,
"cds_start": null,
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"cds_length": 543,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578209.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.106-257T>A",
"hgvs_p": null,
"transcript": "ENST00000579361.1",
"protein_id": "ENSP00000463367.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000579361.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.63-296T>A",
"hgvs_p": null,
"transcript": "ENST00000579832.1",
"protein_id": "ENSP00000464983.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579832.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.7189-257T>A",
"hgvs_p": null,
"transcript": "XM_011523763.3",
"protein_id": "XP_011522065.1",
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"biotype": "protein_coding",
"feature": "XM_011523763.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.7183-257T>A",
"hgvs_p": null,
"transcript": "XM_011523764.3",
"protein_id": "XP_011522066.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_011523764.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.6949-257T>A",
"hgvs_p": null,
"transcript": "XM_005256563.5",
"protein_id": "XP_005256620.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2339,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 22,
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"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.6829-257T>A",
"hgvs_p": null,
"transcript": "XM_047435683.1",
"protein_id": "XP_047291639.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
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"hgvs_c": "c.3496-257T>A",
"hgvs_p": null,
"transcript": "XM_011523766.3",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.3382-257T>A",
"hgvs_p": null,
"transcript": "XM_047435684.1",
"protein_id": "XP_047291640.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435684.1"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "MPRIP",
"gene_hgnc_id": 30321,
"hgvs_c": "c.3376-257T>A",
"hgvs_p": null,
"transcript": "XM_047435685.1",
"protein_id": "XP_047291641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": null,
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"cds_length": 3447,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435685.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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{
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"biotype": "pseudogene",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001364716.4",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000584203.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.67+922A>T",
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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
}