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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: 2-229793128-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=229793128&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 229793128,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000675903.1",
"consequences": [
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "NM_001348323.3",
"protein_id": "NP_001335252.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3984,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 4164,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": "ENST00000675903.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "ENST00000675903.1",
"protein_id": "ENSP00000502713.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3984,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 4164,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": "NM_001348323.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3903_3904delAG",
"hgvs_p": "p.Gly1302fs",
"transcript": "ENST00000389044.8",
"protein_id": "ENSP00000373696.4",
"transcript_support_level": 1,
"aa_start": 1301,
"aa_end": null,
"aa_length": 2040,
"cds_start": 3903,
"cds_end": null,
"cds_length": 6123,
"cdna_start": 4073,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3759_3760delAG",
"hgvs_p": "p.Gly1254fs",
"transcript": "ENST00000283943.9",
"protein_id": "ENSP00000283943.4",
"transcript_support_level": 1,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1992,
"cds_start": 3759,
"cds_end": null,
"cds_length": 5979,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 9874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.2949_2950delAG",
"hgvs_p": "p.Gly984fs",
"transcript": "ENST00000389045.7",
"protein_id": "ENSP00000373697.3",
"transcript_support_level": 1,
"aa_start": 983,
"aa_end": null,
"aa_length": 1722,
"cds_start": 2949,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3987_3988delAG",
"hgvs_p": "p.Gly1330fs",
"transcript": "NM_001348328.1",
"protein_id": "NP_001335257.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3987,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3987_3988delAG",
"hgvs_p": "p.Gly1330fs",
"transcript": "NM_001348329.2",
"protein_id": "NP_001335258.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3987,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 4518,
"cdna_end": null,
"cdna_length": 10454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3987_3988delAG",
"hgvs_p": "p.Gly1330fs",
"transcript": "NM_001348330.2",
"protein_id": "NP_001335259.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3987,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 4556,
"cdna_end": null,
"cdna_length": 10492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3987_3988delAG",
"hgvs_p": "p.Gly1330fs",
"transcript": "ENST00000675453.1",
"protein_id": "ENSP00000502271.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3987,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "NM_001348322.1",
"protein_id": "NP_001335251.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3984,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 4282,
"cdna_end": null,
"cdna_length": 10218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "NM_001348324.2",
"protein_id": "NP_001335253.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3984,
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"cds_length": 6204,
"cdna_start": 4260,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "NM_001348325.2",
"protein_id": "NP_001335254.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3984,
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"cdna_start": 4675,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "NM_001348326.2",
"protein_id": "NP_001335255.1",
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"aa_start": 1328,
"aa_end": null,
"aa_length": 2067,
"cds_start": 3984,
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"cdna_start": 4550,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
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"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "NM_001348327.2",
"protein_id": "NP_001335256.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "ENST00000675423.1",
"protein_id": "ENSP00000502768.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
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"cds_start": 3984,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3984_3985delAG",
"hgvs_p": "p.Gly1329fs",
"transcript": "ENST00000704577.1",
"protein_id": "ENSP00000515952.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3906_3907delAG",
"hgvs_p": "p.Gly1303fs",
"transcript": "NM_001348333.1",
"protein_id": "NP_001335262.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 2041,
"cds_start": 3906,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3903_3904delAG",
"hgvs_p": "p.Gly1302fs",
"transcript": "NM_001284214.2",
"protein_id": "NP_001271143.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
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"cds_start": 3903,
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3903_3904delAG",
"hgvs_p": "p.Gly1302fs",
"transcript": "NM_001348315.2",
"protein_id": "NP_001335244.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3858_3859delAG",
"hgvs_p": "p.Gly1287fs",
"transcript": "NM_001284215.2",
"protein_id": "NP_001271144.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3858_3859delAG",
"hgvs_p": "p.Gly1287fs",
"transcript": "NM_001348316.2",
"protein_id": "NP_001335245.1",
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"aa_start": 1286,
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"cds_start": 3858,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.3858_3859delAG",
"hgvs_p": "p.Gly1287fs",
"transcript": "ENST00000704580.1",
"protein_id": "ENSP00000515955.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 2025,
"cds_start": 3858,
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"cdna_start": 4017,
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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": 27,
"exon_rank_end": null,
"exon_count": 42,
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}
],
"gene_symbol": "TRIP12",
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"computational_score_selected": null,
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"splice_score_selected": 0.9800000190734863,
"splice_prediction_selected": "Pathogenic",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.469,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.98,
"spliceai_max_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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],
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}