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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: 15-63656210-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63656210&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63656210,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000443617.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9748C>T",
"hgvs_p": "p.Arg3250*",
"transcript": "NM_003922.4",
"protein_id": "NP_003913.3",
"transcript_support_level": null,
"aa_start": 3250,
"aa_end": null,
"aa_length": 4861,
"cds_start": 9748,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 9896,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "ENST00000443617.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9748C>T",
"hgvs_p": "p.Arg3250*",
"transcript": "ENST00000443617.7",
"protein_id": "ENSP00000390158.2",
"transcript_support_level": 1,
"aa_start": 3250,
"aa_end": null,
"aa_length": 4861,
"cds_start": 9748,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 9896,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "NM_003922.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9841C>T",
"hgvs_p": "p.Arg3281*",
"transcript": "XM_047433210.1",
"protein_id": "XP_047289166.1",
"transcript_support_level": null,
"aa_start": 3281,
"aa_end": null,
"aa_length": 4909,
"cds_start": 9841,
"cds_end": null,
"cds_length": 14730,
"cdna_start": 9994,
"cdna_end": null,
"cdna_length": 15346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9838C>T",
"hgvs_p": "p.Arg3280*",
"transcript": "XM_047433211.1",
"protein_id": "XP_047289167.1",
"transcript_support_level": null,
"aa_start": 3280,
"aa_end": null,
"aa_length": 4908,
"cds_start": 9838,
"cds_end": null,
"cds_length": 14727,
"cdna_start": 9991,
"cdna_end": null,
"cdna_length": 15343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9820C>T",
"hgvs_p": "p.Arg3274*",
"transcript": "XM_047433213.1",
"protein_id": "XP_047289169.1",
"transcript_support_level": null,
"aa_start": 3274,
"aa_end": null,
"aa_length": 4902,
"cds_start": 9820,
"cds_end": null,
"cds_length": 14709,
"cdna_start": 9973,
"cdna_end": null,
"cdna_length": 15325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9817C>T",
"hgvs_p": "p.Arg3273*",
"transcript": "XM_047433214.1",
"protein_id": "XP_047289170.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 4901,
"cds_start": 9817,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 9970,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9817C>T",
"hgvs_p": "p.Arg3273*",
"transcript": "XM_047433215.1",
"protein_id": "XP_047289171.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 4901,
"cds_start": 9817,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 9970,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9796C>T",
"hgvs_p": "p.Arg3266*",
"transcript": "XM_047433216.1",
"protein_id": "XP_047289172.1",
"transcript_support_level": null,
"aa_start": 3266,
"aa_end": null,
"aa_length": 4894,
"cds_start": 9796,
"cds_end": null,
"cds_length": 14685,
"cdna_start": 9949,
"cdna_end": null,
"cdna_length": 15301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9790C>T",
"hgvs_p": "p.Arg3264*",
"transcript": "XM_017022702.2",
"protein_id": "XP_016878191.1",
"transcript_support_level": null,
"aa_start": 3264,
"aa_end": null,
"aa_length": 4892,
"cds_start": 9790,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 9938,
"cdna_end": null,
"cdna_length": 15290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9841C>T",
"hgvs_p": "p.Arg3281*",
"transcript": "XM_047433217.1",
"protein_id": "XP_047289173.1",
"transcript_support_level": null,
"aa_start": 3281,
"aa_end": null,
"aa_length": 4892,
"cds_start": 9841,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 9994,
"cdna_end": null,
"cdna_length": 15295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9790C>T",
"hgvs_p": "p.Arg3264*",
"transcript": "XM_047433218.1",
"protein_id": "XP_047289174.1",
"transcript_support_level": null,
"aa_start": 3264,
"aa_end": null,
"aa_length": 4892,
"cds_start": 9790,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 9943,
"cdna_end": null,
"cdna_length": 15295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9790C>T",
"hgvs_p": "p.Arg3264*",
"transcript": "XM_047433219.1",
"protein_id": "XP_047289175.1",
"transcript_support_level": null,
"aa_start": 3264,
"aa_end": null,
"aa_length": 4892,
"cds_start": 9790,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 10263,
"cdna_end": null,
"cdna_length": 15615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9838C>T",
"hgvs_p": "p.Arg3280*",
"transcript": "XM_047433220.1",
"protein_id": "XP_047289176.1",
"transcript_support_level": null,
"aa_start": 3280,
"aa_end": null,
"aa_length": 4891,
"cds_start": 9838,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 9991,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9838C>T",
"hgvs_p": "p.Arg3280*",
"transcript": "XM_047433221.1",
"protein_id": "XP_047289177.1",
"transcript_support_level": null,
"aa_start": 3280,
"aa_end": null,
"aa_length": 4891,
"cds_start": 9838,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 9991,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9787C>T",
"hgvs_p": "p.Arg3263*",
"transcript": "XM_047433222.1",
"protein_id": "XP_047289178.1",
"transcript_support_level": null,
"aa_start": 3263,
"aa_end": null,
"aa_length": 4891,
"cds_start": 9787,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 9940,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9820C>T",
"hgvs_p": "p.Arg3274*",
"transcript": "XM_047433223.1",
"protein_id": "XP_047289179.1",
"transcript_support_level": null,
"aa_start": 3274,
"aa_end": null,
"aa_length": 4885,
"cds_start": 9820,
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"cds_length": 14658,
"cdna_start": 9973,
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"cdna_length": 15274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9817C>T",
"hgvs_p": "p.Arg3273*",
"transcript": "XM_047433224.1",
"protein_id": "XP_047289180.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 4884,
"cds_start": 9817,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 9970,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9817C>T",
"hgvs_p": "p.Arg3273*",
"transcript": "XM_047433225.1",
"protein_id": "XP_047289181.1",
"transcript_support_level": null,
"aa_start": 3273,
"aa_end": null,
"aa_length": 4884,
"cds_start": 9817,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 9970,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9766C>T",
"hgvs_p": "p.Arg3256*",
"transcript": "XM_047433226.1",
"protein_id": "XP_047289182.1",
"transcript_support_level": null,
"aa_start": 3256,
"aa_end": null,
"aa_length": 4884,
"cds_start": 9766,
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"cdna_start": 9919,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9766C>T",
"hgvs_p": "p.Arg3256*",
"transcript": "XM_047433227.1",
"protein_id": "XP_047289183.1",
"transcript_support_level": null,
"aa_start": 3256,
"aa_end": null,
"aa_length": 4884,
"cds_start": 9766,
"cds_end": null,
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"cdna_start": 9914,
"cdna_end": null,
"cdna_length": 15266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9763C>T",
"hgvs_p": "p.Arg3255*",
"transcript": "XM_017022705.2",
"protein_id": "XP_016878194.1",
"transcript_support_level": null,
"aa_start": 3255,
"aa_end": null,
"aa_length": 4883,
"cds_start": 9763,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 9911,
"cdna_end": null,
"cdna_length": 15263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.9814C>T",
"hgvs_p": "p.Arg3272*",
"transcript": "XM_047433228.1",
"protein_id": "XP_047289184.1",
"transcript_support_level": null,
"aa_start": 3272,
"aa_end": null,
"aa_length": 4883,
"cds_start": 9814,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 9967,
"cdna_end": null,
"cdna_length": 15268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
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}
],
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"dbsnp": "rs753780877",
"frequency_reference_population": 6.8452925e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84529e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.142,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 12,
"criteria": [
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"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000443617.7",
"gene_symbol": "HERC1",
"hgnc_id": 4867,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.9748C>T",
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],
"clinvar_disease": " and intellectual disability, and psychomotor retardation, cerebellar atrophy, dysmorphic facies,Macrocephaly,Megalencephaly with thick corpus callosum",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability|Macrocephaly, dysmorphic facies, and psychomotor retardation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}