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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: 17-8209868-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8209868&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8209868,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000585124.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "NM_004217.4",
"protein_id": "NP_004208.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": "ENST00000585124.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "ENST00000585124.6",
"protein_id": "ENSP00000463999.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": "NM_004217.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "ENST00000316199.10",
"protein_id": "ENSP00000313950.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "ENST00000578549.5",
"protein_id": "ENSP00000462207.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": -4,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "NM_001284526.2",
"protein_id": "NP_001271455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "NM_001313950.2",
"protein_id": "NP_001300879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.48+309T>A",
"hgvs_p": null,
"transcript": "NM_001313953.3",
"protein_id": "NP_001300882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": -4,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.-137+662T>A",
"hgvs_p": null,
"transcript": "NM_001313952.2",
"protein_id": "NP_001300881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.-76+662T>A",
"hgvs_p": null,
"transcript": "NM_001256834.3",
"protein_id": "NP_001243763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.-76+86T>A",
"hgvs_p": null,
"transcript": "NM_001313951.1",
"protein_id": "NP_001300880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.-76+662T>A",
"hgvs_p": null,
"transcript": "ENST00000534871.5",
"protein_id": "ENSP00000443869.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 303,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "AURKB",
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"hgvs_c": "c.-137+662T>A",
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"transcript": "ENST00000577833.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "AURKB",
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"hgvs_c": "c.48+309T>A",
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"transcript": "ENST00000581511.5",
"protein_id": "ENSP00000462930.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "AURKB",
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"hgvs_c": "c.-419+309T>A",
"hgvs_p": null,
"transcript": "NM_001313954.2",
"protein_id": "NP_001300883.1",
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},
{
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],
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"gene_symbol": "AURKB",
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"hgvs_c": "c.-176+662T>A",
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"transcript": "NM_001313955.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "AURKB",
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"hgvs_c": "c.-76+86T>A",
"hgvs_p": null,
"transcript": "ENST00000582368.5",
"protein_id": "ENSP00000464031.1",
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},
{
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],
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"gene_symbol": "AURKB",
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"hgvs_c": "c.-137+662T>A",
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"transcript": "ENST00000583915.1",
"protein_id": "ENSP00000462027.1",
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "n.48+309T>A",
"hgvs_p": null,
"transcript": "ENST00000580998.5",
"protein_id": "ENSP00000461981.1",
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},
{
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"protein_coding": false,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AURKB",
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"hgvs_c": "n.103+309T>A",
"hgvs_p": null,
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},
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],
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"gene_symbol": "AURKB",
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],
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.-137+662T>A",
"hgvs_p": null,
"transcript": "XM_011524072.4",
"protein_id": "XP_011522374.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.-137+86T>A",
"hgvs_p": null,
"transcript": "XM_047437050.1",
"protein_id": "XP_047293006.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"transcript": "XM_047437051.1",
"protein_id": "XP_047293007.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_length": 1138,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "AURKB",
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"hgvs_c": "n.*130T>A",
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"transcript": "ENST00000583124.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 323,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"dbsnp": "rs3027260",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.298,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000585124.6",
"gene_symbol": "AURKB",
"hgnc_id": 11390,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.48+309T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}