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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: 17-7222180-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7222180&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7222180,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270447.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "NM_000018.4",
"protein_id": "NP_000009.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 655,
"cds_start": 756,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000018.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000356839.10",
"protein_id": "ENSP00000349297.5",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 655,
"cds_start": 756,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356839.10"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.690T>A",
"hgvs_p": "p.Asn230Lys",
"transcript": "ENST00000350303.9",
"protein_id": "ENSP00000344152.5",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 633,
"cds_start": 690,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350303.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.825T>A",
"hgvs_p": "p.Asn275Lys",
"transcript": "NM_001270447.2",
"protein_id": "NP_001257376.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 678,
"cds_start": 825,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270447.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.825T>A",
"hgvs_p": "p.Asn275Lys",
"transcript": "ENST00000543245.6",
"protein_id": "ENSP00000438689.2",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 678,
"cds_start": 825,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543245.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000945302.1",
"protein_id": "ENSP00000615361.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 669,
"cds_start": 756,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945302.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.786T>A",
"hgvs_p": "p.Asn262Lys",
"transcript": "ENST00000883761.1",
"protein_id": "ENSP00000553820.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 665,
"cds_start": 786,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883761.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000945308.1",
"protein_id": "ENSP00000615367.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 663,
"cds_start": 756,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945308.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.774T>A",
"hgvs_p": "p.Asn258Lys",
"transcript": "ENST00000883770.1",
"protein_id": "ENSP00000553829.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 661,
"cds_start": 774,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883770.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000916066.1",
"protein_id": "ENSP00000586125.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 655,
"cds_start": 756,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916066.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000916068.1",
"protein_id": "ENSP00000586127.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 655,
"cds_start": 756,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916068.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000883764.1",
"protein_id": "ENSP00000553823.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 654,
"cds_start": 756,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883764.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000883757.1",
"protein_id": "ENSP00000553816.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 652,
"cds_start": 756,
"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": "ENST00000883757.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.747T>A",
"hgvs_p": "p.Asn249Lys",
"transcript": "ENST00000945291.1",
"protein_id": "ENSP00000615350.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 652,
"cds_start": 747,
"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": "ENST00000945291.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000945298.1",
"protein_id": "ENSP00000615357.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 651,
"cds_start": 756,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945298.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000945297.1",
"protein_id": "ENSP00000615356.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 650,
"cds_start": 756,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945297.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000883762.1",
"protein_id": "ENSP00000553821.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 647,
"cds_start": 756,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883762.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000883763.1",
"protein_id": "ENSP00000553822.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 647,
"cds_start": 756,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883763.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.690T>A",
"hgvs_p": "p.Asn230Lys",
"transcript": "ENST00000945292.1",
"protein_id": "ENSP00000615351.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 647,
"cds_start": 690,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945292.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.756T>A",
"hgvs_p": "p.Asn252Lys",
"transcript": "ENST00000945303.1",
"protein_id": "ENSP00000615362.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 646,
"cds_start": 756,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945303.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.723T>A",
"hgvs_p": "p.Asn241Lys",
"transcript": "ENST00000945299.1",
"protein_id": "ENSP00000615358.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 644,
"cds_start": 723,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945299.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.717T>A",
"hgvs_p": "p.Asn239Lys",
"transcript": "ENST00000945300.1",
"protein_id": "ENSP00000615359.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 642,
"cds_start": 717,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*182T>A",
"hgvs_p": null,
"transcript": "ENST00000581562.5",
"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": "ENST00000581562.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*34T>A",
"hgvs_p": null,
"transcript": "ENST00000583760.1",
"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": "ENST00000583760.1"
}
],
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"dbsnp": "rs143233413",
"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": 0.9624316692352295,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5099999904632568,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.759,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -1.344,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.51,
"spliceai_max_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001270447.2",
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.825T>A",
"hgvs_p": "p.Asn275Lys"
}
],
"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
}