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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: 17-17813636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17813636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17813636,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001005291.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "NM_004176.5",
"protein_id": "NP_004167.3",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261646.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004176.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "ENST00000261646.11",
"protein_id": "ENSP00000261646.5",
"transcript_support_level": 1,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004176.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261646.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3125G>A",
"hgvs_p": "p.Arg1042His",
"transcript": "ENST00000355815.8",
"protein_id": "ENSP00000348069.4",
"transcript_support_level": 1,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3125,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355815.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3125G>A",
"hgvs_p": "p.Arg1042His",
"transcript": "NM_001005291.3",
"protein_id": "NP_001005291.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3125,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005291.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3122G>A",
"hgvs_p": "p.Arg1041His",
"transcript": "NM_001388385.1",
"protein_id": "NP_001375314.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388385.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3119G>A",
"hgvs_p": "p.Arg1040His",
"transcript": "ENST00000892469.1",
"protein_id": "ENSP00000562529.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3119,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892469.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "NM_001388386.1",
"protein_id": "NP_001375315.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388386.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3074G>A",
"hgvs_p": "p.Arg1025His",
"transcript": "NM_001388387.1",
"protein_id": "NP_001375316.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388387.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2990G>A",
"hgvs_p": "p.Arg997His",
"transcript": "NM_001388388.1",
"protein_id": "NP_001375317.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2990,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388388.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3032G>A",
"hgvs_p": "p.Arg1011His",
"transcript": "ENST00000892473.1",
"protein_id": "ENSP00000562532.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3032,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892473.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3029G>A",
"hgvs_p": "p.Arg1010His",
"transcript": "NM_001388389.1",
"protein_id": "NP_001375318.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388389.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3029G>A",
"hgvs_p": "p.Arg1010His",
"transcript": "ENST00000892472.1",
"protein_id": "ENSP00000562530.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892472.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3017G>A",
"hgvs_p": "p.Arg1006His",
"transcript": "NM_001388390.1",
"protein_id": "NP_001375319.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3017,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388390.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3017G>A",
"hgvs_p": "p.Arg1006His",
"transcript": "ENST00000892477.1",
"protein_id": "ENSP00000562536.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3017,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892477.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3008G>A",
"hgvs_p": "p.Arg1003His",
"transcript": "NM_001388391.1",
"protein_id": "NP_001375320.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388391.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3008G>A",
"hgvs_p": "p.Arg1003His",
"transcript": "ENST00000918821.1",
"protein_id": "ENSP00000588880.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918821.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2972G>A",
"hgvs_p": "p.Arg991His",
"transcript": "ENST00000892480.1",
"protein_id": "ENSP00000562539.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892480.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2963G>A",
"hgvs_p": "p.Arg988His",
"transcript": "NM_001321096.3",
"protein_id": "NP_001308025.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321096.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2891G>A",
"hgvs_p": "p.Arg964His",
"transcript": "ENST00000918822.1",
"protein_id": "ENSP00000588881.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2891,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918822.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938His",
"transcript": "NM_001388392.1",
"protein_id": "NP_001375321.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388392.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "ENST00000395757.6",
"protein_id": "ENSP00000379106.2",
"transcript_support_level": 2,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395757.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2654G>A",
"hgvs_p": "p.Arg885His",
"transcript": "NM_001388393.1",
"protein_id": "NP_001375322.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1020,
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR33B",
"gene_hgnc_id": 32791,
"hgvs_c": "n.*221G>A",
"hgvs_p": null,
"transcript": "unassigned_transcript_2971",
"protein_id": null,
"transcript_support_level": null,
"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": "miRNA",
"feature": "unassigned_transcript_2971"
}
],
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"dbsnp": "rs776419406",
"frequency_reference_population": 0.0000063366056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000561063,
"gnomad_genomes_af": 0.0000131349,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05800265073776245,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0763,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.144,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001005291.3",
"gene_symbol": "SREBF1",
"hgnc_id": 11289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3125G>A",
"hgvs_p": "p.Arg1042His"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_106835.1",
"gene_symbol": "MIR6777",
"hgnc_id": 50173,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-91G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_030361.1",
"gene_symbol": "MIR33B",
"hgnc_id": 32791,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*200G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}