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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: 6-32845731-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32845731&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32845731,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000593.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2095A>G",
"hgvs_p": "p.Ile699Val",
"transcript": "NM_000593.6",
"protein_id": "NP_000584.3",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 748,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354258.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000593.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2095A>G",
"hgvs_p": "p.Ile699Val",
"transcript": "ENST00000354258.5",
"protein_id": "ENSP00000346206.5",
"transcript_support_level": 1,
"aa_start": 699,
"aa_end": null,
"aa_length": 748,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000593.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354258.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "ENST00000920268.1",
"protein_id": "ENSP00000590327.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 752,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920268.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2077A>G",
"hgvs_p": "p.Ile693Val",
"transcript": "ENST00000875705.1",
"protein_id": "ENSP00000545764.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 742,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875705.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Ile664Val",
"transcript": "ENST00000875704.1",
"protein_id": "ENSP00000545763.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 713,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875704.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1966A>G",
"hgvs_p": "p.Ile656Val",
"transcript": "ENST00000698424.1",
"protein_id": "ENSP00000513712.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 705,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698424.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1921A>G",
"hgvs_p": "p.Ile641Val",
"transcript": "ENST00000920267.1",
"protein_id": "ENSP00000590326.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 690,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920267.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1906A>G",
"hgvs_p": "p.Ile636Val",
"transcript": "ENST00000698422.1",
"protein_id": "ENSP00000513710.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 685,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698422.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Ile633Val",
"transcript": "ENST00000875706.1",
"protein_id": "ENSP00000545765.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 682,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875706.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Ile498Val",
"transcript": "NM_001292022.2",
"protein_id": "NP_001278951.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 547,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292022.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Ile214Val",
"transcript": "ENST00000643049.2",
"protein_id": "ENSP00000494148.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 263,
"cds_start": 640,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643049.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.2190A>G",
"hgvs_p": "p.Ser730Ser",
"transcript": "ENST00000698423.1",
"protein_id": "ENSP00000513711.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 829,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMB9",
"gene_hgnc_id": 9546,
"hgvs_c": "c.-10+1457T>C",
"hgvs_p": null,
"transcript": "ENST00000395330.6",
"protein_id": "ENSP00000378739.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395330.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMB9",
"gene_hgnc_id": 9546,
"hgvs_c": "c.-10+861T>C",
"hgvs_p": null,
"transcript": "ENST00000414474.5",
"protein_id": "ENSP00000394363.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414474.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.519T>C",
"hgvs_p": null,
"transcript": "ENST00000413039.6",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000413039.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.576T>C",
"hgvs_p": null,
"transcript": "ENST00000415067.2",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415067.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.737T>C",
"hgvs_p": null,
"transcript": "ENST00000429600.2",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429600.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.503T>C",
"hgvs_p": null,
"transcript": "ENST00000453426.2",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000453426.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB8-AS1",
"gene_hgnc_id": 39758,
"hgvs_c": "n.870T>C",
"hgvs_p": null,
"transcript": "ENST00000458296.2",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000458296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.2020A>G",
"hgvs_p": null,
"transcript": "ENST00000486332.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.975A>G",
"hgvs_p": null,
"transcript": "ENST00000487296.1",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1531A>G",
"hgvs_p": null,
"transcript": "ENST00000643923.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.5309433937072754,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.323,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2412,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.498,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000593.6",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile699Val"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000395330.6",
"gene_symbol": "PSMB9",
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"effects": [
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],
"inheritance_mode": "Unknown",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000413039.6",
"gene_symbol": "PSMB8-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.519T>C",
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}
],
"clinvar_disease": "MHC class I deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class I deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}