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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: 1-201361286-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201361286&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201361286,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000656932.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Lys268Ile",
"transcript": "NM_001276345.2",
"protein_id": "NP_001263274.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 298,
"cds_start": 803,
"cds_end": null,
"cds_length": 897,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "ENST00000656932.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Lys268Ile",
"transcript": "ENST00000656932.1",
"protein_id": "ENSP00000499593.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 298,
"cds_start": 803,
"cds_end": null,
"cds_length": 897,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "NM_001276345.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.761A>T",
"hgvs_p": "p.Lys254Ile",
"transcript": "ENST00000367322.6",
"protein_id": "ENSP00000356291.2",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 284,
"cds_start": 761,
"cds_end": null,
"cds_length": 855,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.674A>T",
"hgvs_p": "p.Lys225Ile",
"transcript": "ENST00000367320.6",
"protein_id": "ENSP00000356289.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 255,
"cds_start": 674,
"cds_end": null,
"cds_length": 768,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "ENST00000658476.1",
"protein_id": "ENSP00000499741.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 368,
"cds_start": 773,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Lys268Ile",
"transcript": "ENST00000714314.1",
"protein_id": "ENSP00000519590.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 298,
"cds_start": 803,
"cds_end": null,
"cds_length": 897,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.794A>T",
"hgvs_p": "p.Lys265Ile",
"transcript": "NM_000364.4",
"protein_id": "NP_000355.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 295,
"cds_start": 794,
"cds_end": null,
"cds_length": 888,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.794A>T",
"hgvs_p": "p.Lys265Ile",
"transcript": "NM_001406723.1",
"protein_id": "NP_001393652.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 295,
"cds_start": 794,
"cds_end": null,
"cds_length": 888,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.794A>T",
"hgvs_p": "p.Lys265Ile",
"transcript": "ENST00000422165.6",
"protein_id": "ENSP00000395163.2",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 295,
"cds_start": 794,
"cds_end": null,
"cds_length": 888,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.788A>T",
"hgvs_p": "p.Lys263Ile",
"transcript": "ENST00000455702.7",
"protein_id": "ENSP00000402238.3",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 293,
"cds_start": 788,
"cds_end": null,
"cds_length": 882,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "NM_001001430.3",
"protein_id": "NP_001001430.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 288,
"cds_start": 773,
"cds_end": null,
"cds_length": 867,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "NM_001276347.2",
"protein_id": "NP_001263276.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 288,
"cds_start": 773,
"cds_end": null,
"cds_length": 867,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "NM_001406724.1",
"protein_id": "NP_001393653.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 288,
"cds_start": 773,
"cds_end": null,
"cds_length": 867,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "ENST00000367318.10",
"protein_id": "ENSP00000356287.5",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 288,
"cds_start": 773,
"cds_end": null,
"cds_length": 867,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "ENST00000509001.5",
"protein_id": "ENSP00000422031.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 288,
"cds_start": 773,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.773A>T",
"hgvs_p": "p.Lys258Ile",
"transcript": "ENST00000660295.1",
"protein_id": "ENSP00000499418.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 288,
"cds_start": 773,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.770A>T",
"hgvs_p": "p.Lys257Ile",
"transcript": "NM_001406725.1",
"protein_id": "NP_001393654.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 287,
"cds_start": 770,
"cds_end": null,
"cds_length": 864,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Lys255Ile",
"transcript": "NM_001001431.3",
"protein_id": "NP_001001431.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 285,
"cds_start": 764,
"cds_end": null,
"cds_length": 858,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Lys255Ile",
"transcript": "NM_001406726.1",
"protein_id": "NP_001393655.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 285,
"cds_start": 764,
"cds_end": null,
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"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Lys255Ile",
"transcript": "NM_001406727.1",
"protein_id": "NP_001393656.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 285,
"cds_start": 764,
"cds_end": null,
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"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Lys255Ile",
"transcript": "ENST00000412633.3",
"protein_id": "ENSP00000408731.2",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 285,
"cds_start": 764,
"cds_end": null,
"cds_length": 858,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.Lys253Ile",
"transcript": "NM_001406728.1",
"protein_id": "NP_001393657.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 283,
"cds_start": 758,
"cds_end": null,
"cds_length": 852,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
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{
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{
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{
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}
],
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"dbsnp": "rs397516482",
"frequency_reference_population": 0.000006572461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657246,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7969792485237122,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.895,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9824,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.85,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656932.1",
"gene_symbol": "TNNT2",
"hgnc_id": 11949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Lys268Ile"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671234.1",
"gene_symbol": "ENSG00000286600",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.846A>T",
"hgvs_p": null
}
],
"clinvar_disease": " 3, familial restrictive,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1D,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 2,Primary familial hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:5 US:3",
"phenotype_combined": "not specified|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|not provided|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}