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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: 12-21295706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21295706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21295706,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021094.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001386879.1",
"protein_id": "NP_001373808.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683939.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386879.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "ENST00000683939.1",
"protein_id": "ENSP00000508235.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386879.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683939.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "ENST00000307378.10",
"protein_id": "ENSP00000305974.6",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307378.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "n.*741G>A",
"hgvs_p": null,
"transcript": "ENST00000544020.5",
"protein_id": "ENSP00000440154.1",
"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": "ENST00000544020.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "n.*741G>A",
"hgvs_p": null,
"transcript": "ENST00000544020.5",
"protein_id": "ENSP00000440154.1",
"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": "ENST00000544020.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001386878.1",
"protein_id": "NP_001373807.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386878.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001386880.1",
"protein_id": "NP_001373809.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386880.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001386881.1",
"protein_id": "NP_001373810.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386881.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001386882.2",
"protein_id": "NP_001373811.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386882.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_021094.4",
"protein_id": "NP_066580.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021094.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_134431.5",
"protein_id": "NP_602307.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134431.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "ENST00000938257.1",
"protein_id": "ENSP00000608316.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938257.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "ENST00000938258.1",
"protein_id": "ENSP00000608317.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938258.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "ENST00000938259.1",
"protein_id": "ENSP00000608318.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938259.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "ENST00000938261.1",
"protein_id": "ENSP00000608320.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 670,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938261.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Ala386Thr",
"transcript": "NM_001386886.1",
"protein_id": "NP_001373815.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 668,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386886.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Ala386Thr",
"transcript": "NM_001386926.1",
"protein_id": "NP_001373855.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 668,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386926.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Ala386Thr",
"transcript": "NM_001386947.1",
"protein_id": "NP_001373876.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 668,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386947.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Ala386Thr",
"transcript": "NM_001386949.1",
"protein_id": "NP_001373878.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 668,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386949.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Ala386Thr",
"transcript": "NM_001386960.1",
"protein_id": "NP_001373889.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 668,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386960.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Ala368Thr",
"transcript": "NM_001386948.1",
"protein_id": "NP_001373877.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 650,
"cds_start": 1102,
"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": "NM_001386948.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Ala368Thr",
"transcript": "NM_001386952.1",
"protein_id": "NP_001373881.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 650,
"cds_start": 1102,
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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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{
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{
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},
{
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"3_prime_UTR_variant"
],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "SLCO1A2",
"gene_hgnc_id": 10956,
"dbsnp": "rs894763906",
"frequency_reference_population": 0.00000435187,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000411976,
"gnomad_genomes_af": 0.00000657419,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8286256790161133,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.309,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021094.4",
"gene_symbol": "SLCO1A2",
"hgnc_id": 10956,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr"
}
],
"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
}