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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: 1-94824497-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94824497&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 94824497,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001114106.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "NM_001114106.3",
"protein_id": "NP_001107578.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 653,
"cds_start": 140,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271227.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114106.3"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000271227.11",
"protein_id": "ENSP00000271227.6",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 653,
"cds_start": 140,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001114106.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271227.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.-5T>A",
"hgvs_p": null,
"transcript": "ENST00000467909.5",
"protein_id": "ENSP00000432789.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "n.2T>A",
"hgvs_p": null,
"transcript": "ENST00000475883.5",
"protein_id": "ENSP00000434457.1",
"transcript_support_level": 1,
"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": "ENST00000475883.5"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000958852.1",
"protein_id": "ENSP00000628911.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 694,
"cds_start": 140,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958852.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "NM_001258340.2",
"protein_id": "NP_001245269.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 652,
"cds_start": 140,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258340.2"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000879626.1",
"protein_id": "ENSP00000549685.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 652,
"cds_start": 140,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879626.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "ENST00000879630.1",
"protein_id": "ENSP00000549689.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 626,
"cds_start": 32,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879630.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000958851.1",
"protein_id": "ENSP00000628910.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 623,
"cds_start": 140,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958851.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "NM_001258341.2",
"protein_id": "NP_001245270.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 620,
"cds_start": 140,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258341.2"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000529450.5",
"protein_id": "ENSP00000431836.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 620,
"cds_start": 140,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529450.5"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "NM_001258342.2",
"protein_id": "NP_001245271.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 617,
"cds_start": 32,
"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": "NM_001258342.2"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "ENST00000446120.6",
"protein_id": "ENSP00000389143.2",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 617,
"cds_start": 32,
"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": "ENST00000446120.6"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "ENST00000879625.1",
"protein_id": "ENSP00000549684.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 616,
"cds_start": 32,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879625.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000958850.1",
"protein_id": "ENSP00000628909.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 591,
"cds_start": 140,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958850.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "NM_001258343.2",
"protein_id": "NP_001245272.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 585,
"cds_start": 32,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258343.2"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "ENST00000527077.5",
"protein_id": "ENSP00000433641.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 585,
"cds_start": 32,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527077.5"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "ENST00000879627.1",
"protein_id": "ENSP00000549686.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 584,
"cds_start": 32,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879627.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000879628.1",
"protein_id": "ENSP00000549687.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 575,
"cds_start": 140,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879628.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000879629.1",
"protein_id": "ENSP00000549688.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 573,
"cds_start": 140,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879629.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr",
"transcript": "ENST00000879631.1",
"protein_id": "ENSP00000549690.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 541,
"cds_start": 140,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879631.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Phe11Tyr",
"transcript": "ENST00000958853.1",
"protein_id": "ENSP00000628912.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 505,
"cds_start": 32,
"cds_end": null,
"cds_length": 1518,
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"biotype": "pseudogene",
"feature": "XR_946543.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC44A3-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.178+30747A>T",
"hgvs_p": null,
"transcript": "ENST00000634339.1",
"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": "ENST00000634339.1"
}
],
"gene_symbol": "SLC44A3",
"gene_hgnc_id": 28689,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.503809928894043,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.2815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.683,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001114106.3",
"gene_symbol": "SLC44A3",
"hgnc_id": 28689,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.140T>A",
"hgvs_p": "p.Phe47Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634339.1",
"gene_symbol": "SLC44A3-AS1",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.178+30747A>T",
"hgvs_p": null
}
],
"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
}