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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: 19-11575079-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11575079&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11575079,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001611.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001611.5",
"protein_id": "NP_001602.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648477.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001611.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000648477.1",
"protein_id": "ENSP00000496973.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001611.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648477.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000218758.10",
"protein_id": "ENSP00000218758.4",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218758.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.933T>C",
"hgvs_p": "p.Thr311Thr",
"transcript": "ENST00000889667.1",
"protein_id": "ENSP00000559726.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 333,
"cds_start": 933,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889667.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001111034.3",
"protein_id": "NP_001104504.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111034.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001111035.3",
"protein_id": "NP_001104505.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111035.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001111036.3",
"protein_id": "NP_001104506.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111036.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001322023.2",
"protein_id": "NP_001308952.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322023.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001439233.1",
"protein_id": "NP_001426162.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439233.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001439234.1",
"protein_id": "NP_001426163.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439234.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001439235.1",
"protein_id": "NP_001426164.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439235.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "NM_001439236.1",
"protein_id": "NP_001426165.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439236.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000412435.7",
"protein_id": "ENSP00000392374.1",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412435.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000589792.6",
"protein_id": "ENSP00000468685.2",
"transcript_support_level": 3,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589792.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000590832.2",
"protein_id": "ENSP00000465127.2",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590832.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000591319.2",
"protein_id": "ENSP00000464831.2",
"transcript_support_level": 3,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591319.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000592659.2",
"protein_id": "ENSP00000465498.2",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592659.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000592828.7",
"protein_id": "ENSP00000468767.3",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592828.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000649386.2",
"protein_id": "ENSP00000497140.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649386.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000695791.1",
"protein_id": "ENSP00000512173.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695791.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000695811.1",
"protein_id": "ENSP00000512191.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695811.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr",
"transcript": "ENST00000889666.1",
"protein_id": "ENSP00000559725.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 909,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889666.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
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"gene_hgnc_id": null,
"hgvs_c": "n.-170A>G",
"hgvs_p": null,
"transcript": "XR_007067140.1",
"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": "pseudogene",
"feature": "XR_007067140.1"
}
],
"gene_symbol": "ACP5",
"gene_hgnc_id": 124,
"dbsnp": "rs2145081214",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.587,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001611.5",
"gene_symbol": "ACP5",
"hgnc_id": 124,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.909T>C",
"hgvs_p": "p.Thr303Thr"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000585493.5",
"gene_symbol": "ZNF627",
"hgnc_id": 30570,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-197-171A>G",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007067140.1",
"gene_symbol": "LOC124904638",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-170A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Spondyloenchondrodysplasia with immune dysregulation",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Spondyloenchondrodysplasia with immune dysregulation",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}