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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: 6-137198497-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137198497&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137198497,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367739.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.His335Arg",
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 489,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.His335Arg",
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 489,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 479,
"cds_start": 974,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": 325,
"aa_end": null,
"aa_length": 479,
"cds_start": 974,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 479,
"cds_start": 974,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 479,
"cds_start": 974,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.947A>G",
"hgvs_p": "p.His316Arg",
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 470,
"cds_start": 947,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.947A>G",
"hgvs_p": "p.His316Arg",
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 470,
"cds_start": 947,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.His301Arg",
"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
"transcript_support_level": 3,
"aa_start": 301,
"aa_end": null,
"aa_length": 455,
"cds_start": 902,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.His294Arg",
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 448,
"cds_start": 881,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.His294Arg",
"transcript": "ENST00000644894.1",
"protein_id": "ENSP00000495272.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 448,
"cds_start": 881,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.His294Arg",
"transcript": "ENST00000645753.1",
"protein_id": "ENSP00000495103.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 448,
"cds_start": 881,
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"cds_length": 1347,
"cdna_start": 948,
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"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.His294Arg",
"transcript": "ENST00000647124.1",
"protein_id": "ENSP00000496549.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 448,
"cds_start": 881,
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"cdna_start": 964,
"cdna_end": null,
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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": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.His294Arg",
"transcript": "ENST00000696693.1",
"protein_id": "ENSP00000512814.1",
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"cdna_start": 952,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.His317Arg",
"transcript": "ENST00000696697.1",
"protein_id": "ENSP00000512818.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 436,
"cds_start": 950,
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"cdna_start": 1175,
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"cdna_length": 1538,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.His281Arg",
"transcript": "ENST00000696695.1",
"protein_id": "ENSP00000512816.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "XM_006715470.4",
"protein_id": "XP_006715533.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
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"cds_start": 974,
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"cdna_start": 1555,
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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": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "XM_011535793.3",
"protein_id": "XP_011534095.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
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"cds_start": 974,
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"cdna_start": 1173,
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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": 8,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "XM_011535794.2",
"protein_id": "XP_011534096.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.His325Arg",
"transcript": "XM_047418726.1",
"protein_id": "XP_047274682.1",
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"aa_end": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*1031A>G",
"hgvs_p": null,
"transcript": "ENST00000643119.1",
"protein_id": "ENSP00000495934.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2136,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*903A>G",
"hgvs_p": null,
"transcript": "ENST00000696696.1",
"protein_id": "ENSP00000512817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000696694.1",
"protein_id": "ENSP00000512815.1",
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}