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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: 7-1057638-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1057638&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1057638,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_138445.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "NM_001303473.2",
"protein_id": "NP_001290402.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444847.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303473.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000444847.2",
"protein_id": "ENSP00000410743.2",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303473.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444847.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000397095.2",
"protein_id": "ENSP00000380283.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000397095.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHLSN",
"gene_hgnc_id": 22421,
"hgvs_c": "c.130-47495G>T",
"hgvs_p": null,
"transcript": "NM_001318252.2",
"protein_id": "NP_001305181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397098.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318252.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHLSN",
"gene_hgnc_id": 22421,
"hgvs_c": "c.130-47495G>T",
"hgvs_p": null,
"transcript": "ENST00000397098.8",
"protein_id": "ENSP00000380286.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318252.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397098.8"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHLSN",
"gene_hgnc_id": 22421,
"hgvs_c": "c.130-47495G>T",
"hgvs_p": null,
"transcript": "ENST00000357429.10",
"protein_id": "ENSP00000350011.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357429.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.622C>A",
"hgvs_p": "p.Pro208Thr",
"transcript": "XM_047419864.1",
"protein_id": "XP_047275820.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 601,
"cds_start": 622,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419864.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.622C>A",
"hgvs_p": "p.Pro208Thr",
"transcript": "XM_047419865.1",
"protein_id": "XP_047275821.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 601,
"cds_start": 622,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419865.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "NM_001303474.2",
"protein_id": "NP_001290403.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "NM_001303474.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "NM_138445.4",
"protein_id": "NP_612454.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "NM_138445.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853316.1",
"protein_id": "ENSP00000523375.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853316.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853317.1",
"protein_id": "ENSP00000523376.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853317.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853318.1",
"protein_id": "ENSP00000523377.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853318.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853319.1",
"protein_id": "ENSP00000523378.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853319.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853320.1",
"protein_id": "ENSP00000523379.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853320.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853321.1",
"protein_id": "ENSP00000523380.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853321.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853322.1",
"protein_id": "ENSP00000523381.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853322.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853323.1",
"protein_id": "ENSP00000523382.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853323.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853324.1",
"protein_id": "ENSP00000523383.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853324.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853325.1",
"protein_id": "ENSP00000523384.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853325.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853326.1",
"protein_id": "ENSP00000523385.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853326.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR146",
"gene_hgnc_id": 21718,
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000853327.1",
"protein_id": "ENSP00000523386.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 333,
"cds_start": 123,
"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": "ENST00000853327.1"
},
{
"aa_ref": "G",
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"protein_id": "ENSP00000397853.1",
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"biotype": "protein_coding",
"feature": "ENST00000427680.1"
}
],
"gene_symbol": "GPR146",
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"dbsnp": "rs55698772",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.707,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_138445.4",
"gene_symbol": "GPR146",
"hgnc_id": 21718,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.123C>A",
"hgvs_p": "p.Gly41Gly"
},
{
"score": -2,
"benign_score": 2,
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"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001424325.1",
"gene_symbol": "CHLSN",
"hgnc_id": 22421,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.130-47495G>T",
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},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000549241.1",
"gene_symbol": "ENSG00000257607",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1497+127G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}