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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: 9-127894670-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127894670&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127894670,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286999.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "NM_013443.5",
"protein_id": "NP_038471.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373146.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013443.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000373146.6",
"protein_id": "ENSP00000362239.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013443.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373146.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000373142.5",
"protein_id": "ENSP00000362235.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 374,
"cds_start": 139,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373142.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "ENST00000373144.7",
"protein_id": "ENSP00000362237.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 299,
"cds_start": 37,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373144.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "ENST00000622357.5",
"protein_id": "ENSP00000477575.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 299,
"cds_start": 37,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622357.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000291839.10",
"protein_id": "ENSP00000291839.6",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 235,
"cds_start": 139,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291839.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.37G>A",
"hgvs_p": null,
"transcript": "ENST00000646171.1",
"protein_id": "ENSP00000495484.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000646171.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "NM_001286999.2",
"protein_id": "NP_001273928.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 374,
"cds_start": 139,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286999.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Met",
"transcript": "NM_001400830.1",
"protein_id": "NP_001387759.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 358,
"cds_start": 214,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400830.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "NM_001400833.1",
"protein_id": "NP_001387762.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 340,
"cds_start": 37,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400833.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "NM_001400834.1",
"protein_id": "NP_001387763.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 340,
"cds_start": 37,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400834.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "NM_001400835.1",
"protein_id": "NP_001387764.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 340,
"cds_start": 37,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400835.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000852793.1",
"protein_id": "ENSP00000522852.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852793.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000852794.1",
"protein_id": "ENSP00000522853.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852794.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000852796.1",
"protein_id": "ENSP00000522855.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852796.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000852797.1",
"protein_id": "ENSP00000522856.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852797.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000916405.1",
"protein_id": "ENSP00000586464.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916405.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000967698.1",
"protein_id": "ENSP00000637757.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967698.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000967699.1",
"protein_id": "ENSP00000637758.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967699.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000967700.1",
"protein_id": "ENSP00000637759.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 139,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967700.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "NM_001287000.2",
"protein_id": "NP_001273929.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 299,
"cds_start": 37,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287000.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC6",
"gene_hgnc_id": 23364,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Met",
"transcript": "NM_001287001.2",
"protein_id": "NP_001273930.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 299,
"cds_start": 37,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.973,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286999.2",
"gene_symbol": "ST6GALNAC6",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val47Met"
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000646171.1",
"gene_symbol": "ENSG00000257524",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.37G>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_174624.1",
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.928G>A",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}