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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: 2-178658787-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178658787&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178658787,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001267550.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37461A>T",
"hgvs_p": "p.Glu12487Asp",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 12487,
"aa_end": null,
"aa_length": 35991,
"cds_start": 37461,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 37686,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267550.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37461A>T",
"hgvs_p": "p.Glu12487Asp",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 12487,
"aa_end": null,
"aa_length": 35991,
"cds_start": 37461,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 37686,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589042.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37461A>T",
"hgvs_p": "p.Glu12487Asp",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 12487,
"aa_end": null,
"aa_length": 35939,
"cds_start": 37461,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 37686,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446966.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37185A>T",
"hgvs_p": "p.Glu12395Asp",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 12395,
"aa_end": null,
"aa_length": 35899,
"cds_start": 37185,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 37410,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436599.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37461A>T",
"hgvs_p": "p.Glu12487Asp",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 12487,
"aa_end": null,
"aa_length": 35805,
"cds_start": 37461,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 37686,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426232.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 185,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37461A>T",
"hgvs_p": "p.Glu12487Asp",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 12487,
"aa_end": null,
"aa_length": 35991,
"cds_start": 37461,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 37950,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412264.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37377A>T",
"hgvs_p": "p.Glu12459Asp",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 12459,
"aa_end": null,
"aa_length": 35963,
"cds_start": 37377,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 37602,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425332.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.37047A>T",
"hgvs_p": "p.Glu12349Asp",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 12349,
"aa_end": null,
"aa_length": 35853,
"cds_start": 37047,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 37272,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715174.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34272A>T",
"hgvs_p": "p.Glu11424Asp",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 11424,
"aa_end": null,
"aa_length": 34350,
"cds_start": 34272,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 34497,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591111.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 179,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.36354A>T",
"hgvs_p": "p.Glu12118Asp",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 12118,
"aa_end": null,
"aa_length": 35622,
"cds_start": 36354,
"cds_end": null,
"cds_length": 106869,
"cdna_start": 36579,
"cdna_end": null,
"cdna_length": 108117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004819.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 152,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33708A>T",
"hgvs_p": "p.Glu11236Asp",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 11236,
"aa_end": null,
"aa_length": 34326,
"cds_start": 33708,
"cds_end": null,
"cds_length": 102981,
"cdna_start": 33933,
"cdna_end": null,
"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445660.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 151,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33624A>T",
"hgvs_p": "p.Glu11208Asp",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 11208,
"aa_end": null,
"aa_length": 34214,
"cds_start": 33624,
"cds_end": null,
"cds_length": 102645,
"cdna_start": 33849,
"cdna_end": null,
"cdna_length": 103893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445661.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33393A>T",
"hgvs_p": "p.Glu11131Asp",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 11131,
"aa_end": null,
"aa_length": 34137,
"cds_start": 33393,
"cds_end": null,
"cds_length": 102414,
"cdna_start": 33618,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453095.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 156,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31752A>T",
"hgvs_p": "p.Glu10584Asp",
"transcript": "XM_017004820.1",
"protein_id": "XP_016860309.1",
"transcript_support_level": null,
"aa_start": 10584,
"aa_end": null,
"aa_length": 34088,
"cds_start": 31752,
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"cds_length": 102267,
"cdna_start": 31977,
"cdna_end": null,
"cdna_length": 103515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004820.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 156,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31749A>T",
"hgvs_p": "p.Glu10583Asp",
"transcript": "XM_017004821.1",
"protein_id": "XP_016860310.1",
"transcript_support_level": null,
"aa_start": 10583,
"aa_end": null,
"aa_length": 34087,
"cds_start": 31749,
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"cdna_start": 31974,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017004821.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 143,
"exon_rank_end": null,
"exon_count": 300,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.32901A>T",
"hgvs_p": "p.Glu10967Asp",
"transcript": "XM_047445663.1",
"protein_id": "XP_047301619.1",
"transcript_support_level": null,
"aa_start": 10967,
"aa_end": null,
"aa_length": 33839,
"cds_start": 32901,
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"cdna_start": 33126,
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"cdna_length": 102768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445663.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 131,
"exon_rank_end": null,
"exon_count": 277,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31866A>T",
"hgvs_p": "p.Glu10622Asp",
"transcript": "XM_047445668.1",
"protein_id": "XP_047301624.1",
"transcript_support_level": null,
"aa_start": 10622,
"aa_end": null,
"aa_length": 33178,
"cds_start": 31866,
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"cds_length": 99537,
"cdna_start": 32091,
"cdna_end": null,
"cdna_length": 100785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445668.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 184,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.210A>T",
"hgvs_p": "p.Glu70Asp",
"transcript": "XM_024453100.2",
"protein_id": "XP_024308868.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 23574,
"cds_start": 210,
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"cdna_start": 374,
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"biotype": "protein_coding",
"feature": "XM_024453100.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 313,
"intron_rank": 156,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34522+218A>T",
"hgvs_p": null,
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 34350,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256850.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": 155,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31741+218A>T",
"hgvs_p": null,
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 33423,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133378.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": 155,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31741+218A>T",
"hgvs_p": null,
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 33423,
"cds_start": null,
"cds_end": null,
"cds_length": 100272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342992.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.13859-16470A>T",
"hgvs_p": null,
"transcript": "NM_133437.4",
"protein_id": "NP_597681.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
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"computational_score_selected": 0.0016918480396270752,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
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"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001267550.2",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.37461A>T",
"hgvs_p": "p.Glu12487Asp"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000431752.1",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.124+22089T>A",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007087318.1",
"gene_symbol": "LOC124906100",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2185+14286T>A",
"hgvs_p": null
}
],
"clinvar_disease": " 9, myofibrillar, with early respiratory failure,Autosomal recessive limb-girdle muscular dystrophy type 2J,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Myopathy,Tibial muscular dystrophy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"phenotype_combined": "not specified|not provided|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}