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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: 1-151789328-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151789328&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151789328,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_006862.4",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "NM_001083965.2",
"protein_id": "NP_001077434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368824.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083965.2"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "ENST00000368824.8",
"protein_id": "ENSP00000357815.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083965.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368824.8"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "ENST00000368827.10",
"protein_id": "ENSP00000357819.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368827.10"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1077T>G",
"hgvs_p": null,
"transcript": "ENST00000458431.6",
"protein_id": "ENSP00000395718.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458431.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "n.-28+1052T>G",
"hgvs_p": null,
"transcript": "ENST00000525790.5",
"protein_id": "ENSP00000437147.1",
"transcript_support_level": 1,
"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": "ENST00000525790.5"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "ENST00000916230.1",
"protein_id": "ENSP00000586289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916230.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "ENST00000893137.1",
"protein_id": "ENSP00000563195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893137.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "ENST00000893141.1",
"protein_id": "ENSP00000563200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893141.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1071T>G",
"hgvs_p": null,
"transcript": "ENST00000949953.1",
"protein_id": "ENSP00000620012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949953.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1077T>G",
"hgvs_p": null,
"transcript": "ENST00000949954.1",
"protein_id": "ENSP00000620013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949954.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1077T>G",
"hgvs_p": null,
"transcript": "NM_001083963.1",
"protein_id": "NP_001077432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083963.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null,
"transcript": "NM_006862.4",
"protein_id": "NP_006853.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006862.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1482T>G",
"hgvs_p": null,
"transcript": "ENST00000368822.5",
"protein_id": "ENSP00000357812.1",
"transcript_support_level": 5,
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"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",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TDRKH",
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"hgvs_c": "c.-28+1071T>G",
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"feature": "ENST00000893126.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1071T>G",
"hgvs_p": null,
"transcript": "ENST00000893133.1",
"protein_id": "ENSP00000563192.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000893133.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TDRKH",
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"hgvs_c": "c.-28+1077T>G",
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"biotype": "protein_coding",
"feature": "ENST00000893135.1"
},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1071T>G",
"hgvs_p": null,
"transcript": "ENST00000893139.1",
"protein_id": "ENSP00000563198.1",
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"biotype": "protein_coding",
"feature": "ENST00000893139.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-305-139T>G",
"hgvs_p": null,
"transcript": "ENST00000916232.1",
"protein_id": "ENSP00000586291.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-156+1077T>G",
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"transcript": "ENST00000949957.1",
"protein_id": "ENSP00000620016.1",
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},
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],
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"gene_symbol": "TDRKH",
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"hgvs_c": "c.-28+1077T>G",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"hgvs_c": "c.-28+1071T>G",
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"transcript": "ENST00000368823.5",
"protein_id": "ENSP00000357813.1",
"transcript_support_level": 2,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000368823.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.-28+1077T>G",
"hgvs_p": null,
"transcript": "ENST00000949955.1",
"protein_id": "ENSP00000620014.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949955.1"
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"cds_length": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526413.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "n.-28+1052T>G",
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"transcript": "ENST00000530202.1",
"protein_id": "ENSP00000432452.1",
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"aa_length": null,
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"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": "ENST00000530202.1"
}
],
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"dbsnp": "rs868866",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.372,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006862.4",
"gene_symbol": "TDRKH",
"hgnc_id": 11713,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-28+1052T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}