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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: 8-13086307-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=13086307&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 13086307,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182643.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.4449G>T",
"hgvs_p": "p.Met1483Ile",
"transcript": "NM_182643.3",
"protein_id": "NP_872584.2",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4449,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276297.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182643.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.4449G>T",
"hgvs_p": "p.Met1483Ile",
"transcript": "ENST00000276297.9",
"protein_id": "ENSP00000276297.4",
"transcript_support_level": 1,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4449,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182643.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276297.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3138G>T",
"hgvs_p": "p.Met1046Ile",
"transcript": "ENST00000358919.6",
"protein_id": "ENSP00000351797.2",
"transcript_support_level": 1,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3138,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358919.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.4449G>T",
"hgvs_p": "p.Met1483Ile",
"transcript": "NM_001348081.2",
"protein_id": "NP_001335010.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4449,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348081.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.4449G>T",
"hgvs_p": "p.Met1483Ile",
"transcript": "NM_001413124.1",
"protein_id": "NP_001400053.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4449,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413124.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.4449G>T",
"hgvs_p": "p.Met1483Ile",
"transcript": "ENST00000941272.1",
"protein_id": "ENSP00000611331.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4449,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941272.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3375G>T",
"hgvs_p": "p.Met1125Ile",
"transcript": "NM_001413132.1",
"protein_id": "NP_001400061.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413132.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3273G>T",
"hgvs_p": "p.Met1091Ile",
"transcript": "NM_001413140.1",
"protein_id": "NP_001400069.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413140.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3240G>T",
"hgvs_p": "p.Met1080Ile",
"transcript": "NM_001316668.2",
"protein_id": "NP_001303597.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316668.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3240G>T",
"hgvs_p": "p.Met1080Ile",
"transcript": "ENST00000512044.6",
"protein_id": "ENSP00000422595.2",
"transcript_support_level": 2,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512044.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3231G>T",
"hgvs_p": "p.Met1077Ile",
"transcript": "NM_001413130.1",
"protein_id": "NP_001400059.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413130.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3138G>T",
"hgvs_p": "p.Met1046Ile",
"transcript": "NM_001413135.1",
"protein_id": "NP_001400064.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3138,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413135.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3138G>T",
"hgvs_p": "p.Met1046Ile",
"transcript": "NM_006094.5",
"protein_id": "NP_006085.2",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3138,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006094.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.3021G>T",
"hgvs_p": "p.Met1007Ile",
"transcript": "NM_001413129.1",
"protein_id": "NP_001400058.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3021,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413129.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2919G>T",
"hgvs_p": "p.Met973Ile",
"transcript": "NM_001413136.1",
"protein_id": "NP_001400065.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2919,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413136.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001164271.2",
"protein_id": "NP_001157743.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164271.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001348082.2",
"protein_id": "NP_001335011.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348082.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001348083.1",
"protein_id": "NP_001335012.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348083.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001348084.2",
"protein_id": "NP_001335013.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348084.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001413126.1",
"protein_id": "NP_001400055.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413126.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001413127.1",
"protein_id": "NP_001400056.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413127.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Met972Ile",
"transcript": "NM_001413128.1",
"protein_id": "NP_001400057.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3054,
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{
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{
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{
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{
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{
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{
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{
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{
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],
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{
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],
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"biotype": "retained_intron",
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12511083483695984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182643.3",
"gene_symbol": "DLC1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.4449G>T",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}