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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: 17-42017395-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42017395&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42017395,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003315.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "NM_003315.4",
"protein_id": "NP_003306.3",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 494,
"cds_start": 22,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000457167.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003315.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000457167.9",
"protein_id": "ENSP00000406463.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 494,
"cds_start": 22,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003315.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457167.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.-58G>T",
"hgvs_p": null,
"transcript": "ENST00000316603.12",
"protein_id": "ENSP00000313311.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": null,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316603.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.-246C>A",
"hgvs_p": null,
"transcript": "ENST00000307641.9",
"protein_id": "ENSP00000303580.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307641.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000674233.1",
"protein_id": "ENSP00000501456.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 497,
"cds_start": 22,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674233.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000904031.1",
"protein_id": "ENSP00000574090.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 493,
"cds_start": 22,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904031.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000904029.1",
"protein_id": "ENSP00000574088.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 469,
"cds_start": 22,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904029.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000674306.1",
"protein_id": "ENSP00000501356.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 456,
"cds_start": 22,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674306.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000968335.1",
"protein_id": "ENSP00000638394.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 446,
"cds_start": 22,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968335.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000904030.1",
"protein_id": "ENSP00000574089.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 445,
"cds_start": 22,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904030.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr",
"transcript": "ENST00000674175.1",
"protein_id": "ENSP00000501429.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 347,
"cds_start": 22,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.-346G>T",
"hgvs_p": null,
"transcript": "XM_011525167.4",
"protein_id": "XP_011523469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": null,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525167.4"
},
{
"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": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.38+1043G>T",
"hgvs_p": null,
"transcript": "ENST00000674214.1",
"protein_id": "ENSP00000501531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674214.1"
},
{
"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": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.-92+280G>T",
"hgvs_p": null,
"transcript": "ENST00000674303.1",
"protein_id": "ENSP00000501468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": null,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674303.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.17+3928G>T",
"hgvs_p": null,
"transcript": "ENST00000590348.6",
"protein_id": "ENSP00000464756.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590348.6"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.-291+1043G>T",
"hgvs_p": null,
"transcript": "ENST00000589773.5",
"protein_id": "ENSP00000465228.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589773.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "c.-291+3928G>T",
"hgvs_p": null,
"transcript": "ENST00000591787.1",
"protein_id": "ENSP00000465140.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591787.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.-14-4169C>A",
"hgvs_p": null,
"transcript": "ENST00000585955.5",
"protein_id": "ENSP00000468081.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.44G>T",
"hgvs_p": null,
"transcript": "ENST00000585693.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000585693.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.22G>T",
"hgvs_p": null,
"transcript": "ENST00000585866.6",
"protein_id": "ENSP00000466877.1",
"transcript_support_level": 2,
"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": "ENST00000585866.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.22G>T",
"hgvs_p": null,
"transcript": "ENST00000586335.2",
"protein_id": "ENSP00000464993.2",
"transcript_support_level": 3,
"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": "ENST00000586335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC7",
"gene_hgnc_id": 12392,
"hgvs_c": "n.22G>T",
"hgvs_p": null,
"transcript": "ENST00000588641.6",
"protein_id": "ENSP00000468805.2",
"transcript_support_level": 3,
"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": "ENST00000588641.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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{
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{
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{
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{
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],
"gene_symbol": "DNAJC7",
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"dbsnp": "rs782649180",
"frequency_reference_population": 0.000006567713,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656771,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5067055225372314,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.4278,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.508,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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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,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003315.4",
"gene_symbol": "DNAJC7",
"hgnc_id": 12392,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.22G>T",
"hgvs_p": "p.Asp8Tyr"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000307641.9",
"gene_symbol": "NKIRAS2",
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"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-246C>A",
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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
}