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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: 2-178118179-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178118179&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178118179,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001365579.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "NM_152945.4",
"protein_id": "NP_694453.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286070.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152945.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000286070.10",
"protein_id": "ENSP00000286070.5",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152945.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286070.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000861657.1",
"protein_id": "ENSP00000531716.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861657.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000953979.1",
"protein_id": "ENSP00000624038.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953979.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000953981.1",
"protein_id": "ENSP00000624040.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953981.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000861659.1",
"protein_id": "ENSP00000531718.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 557,
"cds_start": 977,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861659.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "NM_001365579.1",
"protein_id": "NP_001352508.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 476,
"cds_start": 548,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365579.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "NM_001365578.1",
"protein_id": "NP_001352507.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365578.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861654.1",
"protein_id": "ENSP00000531713.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861654.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861655.1",
"protein_id": "ENSP00000531714.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861655.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861656.1",
"protein_id": "ENSP00000531715.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861656.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861658.1",
"protein_id": "ENSP00000531717.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861658.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000914888.1",
"protein_id": "ENSP00000584947.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914888.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000953980.1",
"protein_id": "ENSP00000624039.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 471,
"cds_start": 548,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953980.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017003320.2",
"protein_id": "XP_016858809.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003320.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017003321.2",
"protein_id": "XP_016858810.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003321.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_047443321.1",
"protein_id": "XP_047299277.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443321.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_047443322.1",
"protein_id": "XP_047299278.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 617,
"cds_start": 977,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443322.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "XM_047443323.1",
"protein_id": "XP_047299279.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443323.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "XM_047443324.1",
"protein_id": "XP_047299280.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 474,
"cds_start": 548,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.671G>A",
"hgvs_p": null,
"transcript": "ENST00000424000.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000424000.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1087G>A",
"hgvs_p": null,
"transcript": "XR_007069526.1",
"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_007069526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.658G>A",
"hgvs_p": null,
"transcript": "XR_007069527.1",
"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_007069527.1"
}
],
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"dbsnp": "rs139412077",
"frequency_reference_population": 0.000014904296,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000144034,
"gnomad_genomes_af": 0.0000197003,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13829836249351501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7400000095367432,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.5031,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.718,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.918140181502792,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365579.1",
"gene_symbol": "RBM45",
"hgnc_id": 24468,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}