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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: X-139738051-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=139738051&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 139738051,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173694.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "NM_001353812.2",
"protein_id": "NP_001340741.2",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682941.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353812.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "ENST00000682941.1",
"protein_id": "ENSP00000507250.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353812.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682941.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3162G>C",
"hgvs_p": "p.Gln1054His",
"transcript": "ENST00000327569.7",
"protein_id": "ENSP00000332756.3",
"transcript_support_level": 1,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3162,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327569.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3162G>C",
"hgvs_p": "p.Gln1054His",
"transcript": "ENST00000361648.6",
"protein_id": "ENSP00000355165.2",
"transcript_support_level": 1,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3162,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361648.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3162G>C",
"hgvs_p": "p.Gln1054His",
"transcript": "NM_173694.5",
"protein_id": "NP_775965.3",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3162,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173694.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "NM_001353811.2",
"protein_id": "NP_001340740.2",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353811.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3162G>C",
"hgvs_p": "p.Gln1054His",
"transcript": "NM_001010986.3",
"protein_id": "NP_001010986.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3162,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010986.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "NM_001353810.2",
"protein_id": "NP_001340739.2",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353810.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3144G>C",
"hgvs_p": "p.Gln1048His",
"transcript": "ENST00000370557.5",
"protein_id": "ENSP00000359588.1",
"transcript_support_level": 5,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370557.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3081G>C",
"hgvs_p": "p.Gln1027His",
"transcript": "ENST00000422228.2",
"protein_id": "ENSP00000394573.2",
"transcript_support_level": 3,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3081,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422228.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.354G>C",
"hgvs_p": "p.Gln118His",
"transcript": "ENST00000450801.1",
"protein_id": "ENSP00000391259.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 172,
"cds_start": 354,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450801.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.258G>C",
"hgvs_p": "p.Gln86His",
"transcript": "ENST00000433868.5",
"protein_id": "ENSP00000397923.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 164,
"cds_start": 258,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433868.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3225G>C",
"hgvs_p": "p.Gln1075His",
"transcript": "XM_047442016.1",
"protein_id": "XP_047297972.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442016.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3225G>C",
"hgvs_p": "p.Gln1075His",
"transcript": "XM_047442017.1",
"protein_id": "XP_047297973.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442017.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3225G>C",
"hgvs_p": "p.Gln1075His",
"transcript": "XM_047442018.1",
"protein_id": "XP_047297974.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442018.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "XM_047442019.1",
"protein_id": "XP_047297975.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442019.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "XM_047442020.1",
"protein_id": "XP_047297976.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442020.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "XM_047442021.1",
"protein_id": "XP_047297977.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442021.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3225G>C",
"hgvs_p": "p.Gln1075His",
"transcript": "XM_047442022.1",
"protein_id": "XP_047297978.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3225,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442022.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3135G>C",
"hgvs_p": "p.Gln1045His",
"transcript": "XM_047442023.1",
"protein_id": "XP_047297979.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442023.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3153G>C",
"hgvs_p": "p.Gln1051His",
"transcript": "XM_047442024.1",
"protein_id": "XP_047297980.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442024.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3090G>C",
"hgvs_p": "p.Gln1030His",
"transcript": "XM_047442025.1",
"protein_id": "XP_047297981.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3090,
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{
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{
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{
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{
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{
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},
{
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],
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"gene_symbol": "ATP11C",
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"biotype": "pseudogene",
"feature": "ENST00000460773.5"
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],
"gene_symbol": "ATP11C",
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"frequency_reference_population": 9.2087305e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.20873e-7,
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"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49788960814476013,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.406,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"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": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173694.5",
"gene_symbol": "ATP11C",
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"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.3162G>C",
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],
"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
}