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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: 16-27749634-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27749634&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27749634,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000261588.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2674C>G",
"hgvs_p": "p.Gln892Glu",
"transcript": "NM_015202.5",
"protein_id": "NP_056017.4",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1618,
"cds_start": 2674,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": "ENST00000261588.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2674C>G",
"hgvs_p": "p.Gln892Glu",
"transcript": "ENST00000261588.10",
"protein_id": "ENSP00000261588.4",
"transcript_support_level": 1,
"aa_start": 892,
"aa_end": null,
"aa_length": 1618,
"cds_start": 2674,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": "NM_015202.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2857C>G",
"hgvs_p": "p.Gln953Glu",
"transcript": "XM_005255201.4",
"protein_id": "XP_005255258.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1679,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2803C>G",
"hgvs_p": "p.Gln935Glu",
"transcript": "XM_005255202.4",
"protein_id": "XP_005255259.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1661,
"cds_start": 2803,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2779C>G",
"hgvs_p": "p.Gln927Glu",
"transcript": "XM_011545773.3",
"protein_id": "XP_011544075.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1653,
"cds_start": 2779,
"cds_end": null,
"cds_length": 4962,
"cdna_start": 2870,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2779C>G",
"hgvs_p": "p.Gln927Glu",
"transcript": "XM_011545774.3",
"protein_id": "XP_011544076.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1653,
"cds_start": 2779,
"cds_end": null,
"cds_length": 4962,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2737C>G",
"hgvs_p": "p.Gln913Glu",
"transcript": "XM_011545775.3",
"protein_id": "XP_011544077.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1639,
"cds_start": 2737,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2728C>G",
"hgvs_p": "p.Gln910Glu",
"transcript": "XM_005255203.4",
"protein_id": "XP_005255260.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1636,
"cds_start": 2728,
"cds_end": null,
"cds_length": 4911,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 6653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2725C>G",
"hgvs_p": "p.Gln909Glu",
"transcript": "XM_011545776.3",
"protein_id": "XP_011544078.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1635,
"cds_start": 2725,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2671C>G",
"hgvs_p": "p.Gln891Glu",
"transcript": "XM_024450216.2",
"protein_id": "XP_024305984.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1617,
"cds_start": 2671,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 6596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2608C>G",
"hgvs_p": "p.Gln870Glu",
"transcript": "XM_017023085.2",
"protein_id": "XP_016878574.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1596,
"cds_start": 2608,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 6533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2605C>G",
"hgvs_p": "p.Gln869Glu",
"transcript": "XM_047433842.1",
"protein_id": "XP_047289798.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1595,
"cds_start": 2605,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 6530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2596C>G",
"hgvs_p": "p.Gln866Glu",
"transcript": "XM_006721025.4",
"protein_id": "XP_006721088.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1592,
"cds_start": 2596,
"cds_end": null,
"cds_length": 4779,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 6521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2542C>G",
"hgvs_p": "p.Gln848Glu",
"transcript": "XM_017023087.2",
"protein_id": "XP_016878576.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1574,
"cds_start": 2542,
"cds_end": null,
"cds_length": 4725,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 6467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2476C>G",
"hgvs_p": "p.Gln826Glu",
"transcript": "XM_047433843.1",
"protein_id": "XP_047289799.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1552,
"cds_start": 2476,
"cds_end": null,
"cds_length": 4659,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Gln731Glu",
"transcript": "XM_047433844.1",
"protein_id": "XP_047289800.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1457,
"cds_start": 2191,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2857C>G",
"hgvs_p": "p.Gln953Glu",
"transcript": "XM_005255206.4",
"protein_id": "XP_005255263.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.1552C>G",
"hgvs_p": "p.Gln518Glu",
"transcript": "XM_047433845.1",
"protein_id": "XP_047289801.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1552,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.1453C>G",
"hgvs_p": "p.Gln485Glu",
"transcript": "XM_005255208.3",
"protein_id": "XP_005255265.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1211,
"cds_start": 1453,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2737C>G",
"hgvs_p": "p.Gln913Glu",
"transcript": "XM_047433846.1",
"protein_id": "XP_047289802.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.778C>G",
"hgvs_p": "p.Gln260Glu",
"transcript": "XM_011545777.3",
"protein_id": "XP_011544079.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 986,
"cds_start": 778,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "n.779C>G",
"hgvs_p": null,
"transcript": "ENST00000573850.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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},
{
"aa_ref": null,
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],
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}
],
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"computational_score_selected": 0.1605185568332672,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261588.10",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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{
"score": 0,
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000813528.1",
"gene_symbol": "ENSG00000305858",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}