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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: 1-15727394-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15727394&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15727394,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015164.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "NM_015164.4",
"protein_id": "NP_055979.2",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1322,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375799.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015164.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "ENST00000375799.8",
"protein_id": "ENSP00000364956.3",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1322,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015164.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375799.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ser477Cys",
"transcript": "ENST00000957356.1",
"protein_id": "ENSP00000627415.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1430,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957356.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "ENST00000957353.1",
"protein_id": "ENSP00000627412.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1322,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957353.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Ser454Cys",
"transcript": "ENST00000850891.1",
"protein_id": "ENSP00000520968.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1361,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850891.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "ENST00000957355.1",
"protein_id": "ENSP00000627414.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1322,
"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": "ENST00000957355.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "ENST00000957357.1",
"protein_id": "ENSP00000627416.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1322,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957357.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1262C>G",
"hgvs_p": "p.Ser421Cys",
"transcript": "NM_001410755.1",
"protein_id": "NP_001397684.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 999,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410755.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1262C>G",
"hgvs_p": "p.Ser421Cys",
"transcript": "ENST00000375793.3",
"protein_id": "ENSP00000364950.2",
"transcript_support_level": 5,
"aa_start": 421,
"aa_end": null,
"aa_length": 999,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375793.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1199C>G",
"hgvs_p": "p.Ser400Cys",
"transcript": "ENST00000642363.1",
"protein_id": "ENSP00000494591.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 978,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642363.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Ser296Cys",
"transcript": "ENST00000957354.1",
"protein_id": "ENSP00000627413.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 874,
"cds_start": 887,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957354.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Ser454Cys",
"transcript": "XM_017000757.1",
"protein_id": "XP_016856246.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1361,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000757.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Cys",
"transcript": "XM_017000758.1",
"protein_id": "XP_016856247.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000758.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "c.713C>G",
"hgvs_p": "p.Ser238Cys",
"transcript": "XM_005245791.5",
"protein_id": "XP_005245848.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 816,
"cds_start": 713,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245791.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "n.*330C>G",
"hgvs_p": null,
"transcript": "ENST00000718275.1",
"protein_id": "ENSP00000520713.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000718275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "n.*772C>G",
"hgvs_p": null,
"transcript": "ENST00000718276.2",
"protein_id": "ENSP00000520714.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000718276.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "n.*957C>G",
"hgvs_p": null,
"transcript": "ENST00000850912.1",
"protein_id": "ENSP00000520995.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000850912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "n.*330C>G",
"hgvs_p": null,
"transcript": "ENST00000718275.1",
"protein_id": "ENSP00000520713.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000718275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "n.*772C>G",
"hgvs_p": null,
"transcript": "ENST00000718276.2",
"protein_id": "ENSP00000520714.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000718276.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"hgvs_c": "n.*957C>G",
"hgvs_p": null,
"transcript": "ENST00000850912.1",
"protein_id": "ENSP00000520995.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000850912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237938",
"gene_hgnc_id": 58402,
"hgvs_c": "n.212-4107G>C",
"hgvs_p": null,
"transcript": "ENST00000453804.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000453804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237938",
"gene_hgnc_id": 58402,
"hgvs_c": "n.67-1522G>C",
"hgvs_p": null,
"transcript": "ENST00000615472.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000615472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ENSG00000237938",
"gene_hgnc_id": 58402,
"hgvs_c": "n.67-4041G>C",
"hgvs_p": null,
"transcript": "ENST00000623689.3",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000623689.3"
}
],
"gene_symbol": "PLEKHM2",
"gene_hgnc_id": 29131,
"dbsnp": "rs373711687",
"frequency_reference_population": 0.0005075553,
"hom_count_reference_population": 8,
"allele_count_reference_population": 814,
"gnomad_exomes_af": 0.00053392,
"gnomad_genomes_af": 0.000256178,
"gnomad_exomes_ac": 775,
"gnomad_genomes_ac": 39,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006639391183853149,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.64,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015164.4",
"gene_symbol": "PLEKHM2",
"hgnc_id": 29131,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000453804.1",
"gene_symbol": "ENSG00000237938",
"hgnc_id": 58402,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.212-4107G>C",
"hgvs_p": null
}
],
"clinvar_disease": " Recessive,Dilated Cardiomyopathy",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Dilated Cardiomyopathy, Recessive",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}