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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: 16-57628925-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57628925&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57628925,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_005682.7",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+123T>A",
"hgvs_p": null,
"transcript": "NM_201525.4",
"protein_id": "NP_958933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000562631.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201525.4"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+123T>A",
"hgvs_p": null,
"transcript": "ENST00000562631.7",
"protein_id": "ENSP00000455351.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201525.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562631.7"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+8789T>A",
"hgvs_p": null,
"transcript": "ENST00000567835.5",
"protein_id": "ENSP00000456794.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567835.5"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+97T>A",
"hgvs_p": null,
"transcript": "ENST00000388813.9",
"protein_id": "ENSP00000373465.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388813.9"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+8789T>A",
"hgvs_p": null,
"transcript": "ENST00000568908.5",
"protein_id": "ENSP00000457456.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568908.5"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+9044T>A",
"hgvs_p": null,
"transcript": "ENST00000860541.1",
"protein_id": "ENSP00000530600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": null,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860541.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+123T>A",
"hgvs_p": null,
"transcript": "NM_001145771.3",
"protein_id": "NP_001139243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145771.3"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+9044T>A",
"hgvs_p": null,
"transcript": "NM_001370428.1",
"protein_id": "NP_001357357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370428.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+123T>A",
"hgvs_p": null,
"transcript": "NM_001370429.1",
"protein_id": "NP_001357358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370429.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+9044T>A",
"hgvs_p": null,
"transcript": "NM_001370430.1",
"protein_id": "NP_001357359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370430.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-158+8789T>A",
"hgvs_p": null,
"transcript": "NM_001370431.1",
"protein_id": "NP_001357360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370431.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+8789T>A",
"hgvs_p": null,
"transcript": "NM_001370432.1",
"protein_id": "NP_001357361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": 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": "NM_001370432.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+8789T>A",
"hgvs_p": null,
"transcript": "NM_005682.7",
"protein_id": "NP_005673.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005682.7"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+8789T>A",
"hgvs_p": null,
"transcript": "ENST00000568909.5",
"protein_id": "ENSP00000455215.1",
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"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": "ENST00000568909.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+123T>A",
"hgvs_p": null,
"transcript": "ENST00000673126.2",
"protein_id": "ENSP00000500185.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": 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": "ENST00000673126.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+9249T>A",
"hgvs_p": null,
"transcript": "ENST00000860534.1",
"protein_id": "ENSP00000530593.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860534.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+7080T>A",
"hgvs_p": null,
"transcript": "ENST00000860543.1",
"protein_id": "ENSP00000530602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860543.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-534+8789T>A",
"hgvs_p": null,
"transcript": "ENST00000860550.1",
"protein_id": "ENSP00000530609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860550.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-154+7530T>A",
"hgvs_p": null,
"transcript": "ENST00000860553.1",
"protein_id": "ENSP00000530612.1",
"transcript_support_level": null,
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"feature": "ENST00000860553.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-158+123T>A",
"hgvs_p": null,
"transcript": "ENST00000860554.1",
"protein_id": "ENSP00000530613.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000860554.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+123T>A",
"hgvs_p": null,
"transcript": "NM_001145773.3",
"protein_id": "NP_001139245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 2079,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145773.3"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.-36+8789T>A",
"hgvs_p": null,
"transcript": "NM_001370433.1",
"protein_id": "NP_001357362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": null,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370433.1"
},
{
"aa_ref": null,
"aa_alt": null,
"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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],
"gene_symbol": "ADGRG1",
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"dbsnp": "rs201652072",
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"hom_count_reference_population": 74,
"allele_count_reference_population": 2470,
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"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.595,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005682.7",
"gene_symbol": "ADGRG1",
"hgnc_id": 4512,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -14,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000563251.1",
"gene_symbol": "ENSG00000261633",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273+1480A>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}