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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: 2-178619715-ATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178619715&ref=ATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178619715,
"ref": "ATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 250,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46521_46601delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15507_His15534delinsAsn",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 15507,
"aa_end": null,
"aa_length": 35991,
"cds_start": 46521,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 46826,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 250,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46521_46601delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15507_His15534delinsAsn",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 15507,
"aa_end": null,
"aa_length": 35991,
"cds_start": 46521,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 46826,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 248,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46365_46445delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15455_His15482delinsAsn",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 15455,
"aa_end": null,
"aa_length": 35939,
"cds_start": 46365,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 46670,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 248,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46245_46325delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15415_His15442delinsAsn",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 15415,
"aa_end": null,
"aa_length": 35899,
"cds_start": 46245,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 46550,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 243,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.45963_46043delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15321_His15348delinsAsn",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 15321,
"aa_end": null,
"aa_length": 35805,
"cds_start": 45963,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 46268,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 252,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46521_46601delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15507_His15534delinsAsn",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 15507,
"aa_end": null,
"aa_length": 35991,
"cds_start": 46521,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 47090,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 249,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46437_46517delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15479_His15506delinsAsn",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 15479,
"aa_end": null,
"aa_length": 35963,
"cds_start": 46437,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 46742,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 247,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.46107_46187delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15369_His15396delinsAsn",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 15369,
"aa_end": null,
"aa_length": 35853,
"cds_start": 46107,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 46412,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 200,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.41598_41678delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys13866_His13893delinsAsn",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 13866,
"aa_end": null,
"aa_length": 34350,
"cds_start": 41598,
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"cds_length": 103053,
"cdna_start": 41903,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 200,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.41598_41678delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys13866_His13893delinsAsn",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
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"aa_length": 34350,
"cds_start": 41598,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 199,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.38817_38897delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys12939_His12966delinsAsn",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 12939,
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"aa_length": 33423,
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},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
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"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 199,
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"gene_symbol": "TTN",
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"hgvs_c": "c.38817_38897delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys12939_His12966delinsAsn",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
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"aa_start": 12939,
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"aa_length": 33423,
"cds_start": 38817,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 79,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.19902_19982delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys6634_His6661delinsAsn",
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 78,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.19902_19982delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys6634_His6661delinsAsn",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
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"aa_end": null,
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"cds_start": 19902,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.19701_19781delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys6567_His6594delinsAsn",
"transcript": "NM_133432.3",
"protein_id": "NP_597676.3",
"transcript_support_level": null,
"aa_start": 6567,
"aa_end": null,
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},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 78,
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"hgvs_c": "c.19701_19781delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys6567_His6594delinsAsn",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
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},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 78,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.19326_19406delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys6442_His6469delinsAsn",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 6442,
"aa_end": null,
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"cds_start": 19326,
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"cdna_start": 19631,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.19326_19406delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys6442_His6469delinsAsn",
"transcript": "ENST00000460472.6",
"protein_id": "ENSP00000434586.1",
"transcript_support_level": 5,
"aa_start": 6442,
"aa_end": null,
"aa_length": 26926,
"cds_start": 19326,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "KVEVQWLRNNMVVVQGDKHQMMSEGKIH",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
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"gene_symbol": "TTN",
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.511-12658_511-12578delGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCT",
"hgvs_p": null,
"transcript": "ENST00000768383.1",
"protein_id": null,
"transcript_support_level": null,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.687-12658_687-12578delGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCT",
"hgvs_p": null,
"transcript": "ENST00000768384.1",
"protein_id": null,
"transcript_support_level": null,
"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": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.1605-36_1649delGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCT",
"hgvs_p": null,
"transcript": "NR_038271.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"dbsnp": "rs1553713878",
"frequency_reference_population": 0.000002054167,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205417,
"gnomad_genomes_af": 0.00000658735,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.861,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.46521_46601delGGTGGAAGTCCAATGGCTAAGAAATAACATGGTTGTTGTCCAGGGTGATAAACACCAGATGATGAGTGAAGGAAAGATACA",
"hgvs_p": "p.Lys15507_His15534delinsAsn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000456053.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1572-36_1616delGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCT",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}