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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: 2-3604366-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3604366&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3604366,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001255985.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "NM_024027.5",
"protein_id": "NP_076932.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": "ENST00000349077.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024027.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000349077.9",
"protein_id": "ENSP00000339168.4",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": "NM_024027.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349077.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000382062.6",
"protein_id": "ENSP00000371494.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 247,
"cds_start": 26,
"cds_end": null,
"cds_length": 744,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382062.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.-63G>T",
"hgvs_p": null,
"transcript": "ENST00000236693.11",
"protein_id": "ENSP00000236693.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236693.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "n.266G>T",
"hgvs_p": null,
"transcript": "ENST00000460971.5",
"protein_id": null,
"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": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "n.266G>T",
"hgvs_p": null,
"transcript": "ENST00000487365.5",
"protein_id": null,
"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": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487365.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "NM_001255985.1",
"protein_id": "NP_001242914.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 285,
"cds_start": 68,
"cds_end": null,
"cds_length": 858,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001255985.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000418971.6",
"protein_id": "ENSP00000411770.2",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 285,
"cds_start": 68,
"cds_end": null,
"cds_length": 858,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418971.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856326.1",
"protein_id": "ENSP00000526385.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 104,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856326.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856328.1",
"protein_id": "ENSP00000526387.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856328.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856330.1",
"protein_id": "ENSP00000526389.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856330.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856332.1",
"protein_id": "ENSP00000526391.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856332.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856334.1",
"protein_id": "ENSP00000526393.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856334.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856336.1",
"protein_id": "ENSP00000526395.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856336.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856341.1",
"protein_id": "ENSP00000526400.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856341.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856344.1",
"protein_id": "ENSP00000526403.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856344.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856345.1",
"protein_id": "ENSP00000526404.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856345.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856346.1",
"protein_id": "ENSP00000526405.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856346.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856348.1",
"protein_id": "ENSP00000526407.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856348.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856349.1",
"protein_id": "ENSP00000526408.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856349.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856350.1",
"protein_id": "ENSP00000526409.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856350.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLEC11",
"gene_hgnc_id": 17213,
"hgvs_c": "c.26G>T",
"hgvs_p": "p.Gly9Val",
"transcript": "ENST00000856353.1",
"protein_id": "ENSP00000526412.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 271,
"cds_start": 26,
"cds_end": null,
"cds_length": 816,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856353.1"
},
{
"aa_ref": "G",
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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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"dbsnp": "rs779142171",
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"computational_score_selected": 0.784193754196167,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.384,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001255985.1",
"gene_symbol": "COLEC11",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000456450.1",
"gene_symbol": "ENSG00000237370",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-124C>A",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}