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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: 1-113895203-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113895203&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113895203,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006594.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "NM_001253852.3",
"protein_id": "NP_001240781.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369569.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253852.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "ENST00000369569.6",
"protein_id": "ENSP00000358582.1",
"transcript_support_level": 1,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001253852.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369569.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256658.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2208A>T",
"hgvs_p": "p.Leu736Phe",
"transcript": "ENST00000863127.1",
"protein_id": "ENSP00000533186.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 781,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863127.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438373.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006594.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
"transcript_support_level": 3,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369571.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713590.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713645.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.2082A>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "ENST00000935535.1",
"protein_id": "ENSP00000605594.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 739,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935535.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1944A>T",
"hgvs_p": "p.Leu648Phe",
"transcript": "ENST00000935541.1",
"protein_id": "ENSP00000605600.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 693,
"cds_start": 1944,
"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": "ENST00000935541.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1902A>T",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000863132.1",
"protein_id": "ENSP00000533191.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 679,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863132.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1902A>T",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000970396.1",
"protein_id": "ENSP00000640455.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 679,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970396.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Leu619Phe",
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 664,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437822.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Leu619Phe",
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": 619,
"aa_end": null,
"aa_length": 664,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369564.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Leu619Phe",
"transcript": "ENST00000935536.1",
"protein_id": "ENSP00000605595.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 664,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935536.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Leu619Phe",
"transcript": "ENST00000935543.1",
"protein_id": "ENSP00000605602.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 664,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935543.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1803A>T",
"hgvs_p": "p.Leu601Phe",
"transcript": "NM_001438374.1",
"protein_id": "NP_001425303.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 646,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438374.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1803A>T",
"hgvs_p": "p.Leu601Phe",
"transcript": "ENST00000863120.1",
"protein_id": "ENSP00000533179.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 646,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863120.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1803A>T",
"hgvs_p": "p.Leu601Phe",
"transcript": "ENST00000863129.1",
"protein_id": "ENSP00000533188.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 646,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863129.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1800A>T",
"hgvs_p": "p.Leu600Phe",
"transcript": "ENST00000863121.1",
"protein_id": "ENSP00000533180.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 645,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863121.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.1800A>T",
"hgvs_p": "p.Leu600Phe",
"transcript": "ENST00000863123.1",
"protein_id": "ENSP00000533182.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
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{
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{
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{
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],
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],
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"dbsnp": "rs1553256829",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"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": 0.49931323528289795,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.387,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.138,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"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_006594.5",
"gene_symbol": "AP4B1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Leu694Phe"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000717022.1",
"gene_symbol": "AP4B1-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.484T>A",
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}
],
"clinvar_disease": "Hereditary spastic paraplegia 47",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary spastic paraplegia 47",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}