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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: 1-201359217-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201359217&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201359217,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000656932.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Trp297Leu",
"transcript": "NM_001276345.2",
"protein_id": "NP_001263274.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 298,
"cds_start": 890,
"cds_end": null,
"cds_length": 897,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "ENST00000656932.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Trp297Leu",
"transcript": "ENST00000656932.1",
"protein_id": "ENSP00000499593.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 298,
"cds_start": 890,
"cds_end": null,
"cds_length": 897,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "NM_001276345.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.848G>T",
"hgvs_p": "p.Trp283Leu",
"transcript": "ENST00000367322.6",
"protein_id": "ENSP00000356291.2",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 284,
"cds_start": 848,
"cds_end": null,
"cds_length": 855,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Trp254Leu",
"transcript": "ENST00000367320.6",
"protein_id": "ENSP00000356289.2",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 255,
"cds_start": 761,
"cds_end": null,
"cds_length": 768,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.925G>T",
"hgvs_p": "p.Gly309*",
"transcript": "ENST00000658476.1",
"protein_id": "ENSP00000499741.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 368,
"cds_start": 925,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Trp297Leu",
"transcript": "ENST00000714314.1",
"protein_id": "ENSP00000519590.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 298,
"cds_start": 890,
"cds_end": null,
"cds_length": 897,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.881G>T",
"hgvs_p": "p.Trp294Leu",
"transcript": "NM_000364.4",
"protein_id": "NP_000355.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 295,
"cds_start": 881,
"cds_end": null,
"cds_length": 888,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.881G>T",
"hgvs_p": "p.Trp294Leu",
"transcript": "NM_001406723.1",
"protein_id": "NP_001393652.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 295,
"cds_start": 881,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.881G>T",
"hgvs_p": "p.Trp294Leu",
"transcript": "ENST00000422165.6",
"protein_id": "ENSP00000395163.2",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 295,
"cds_start": 881,
"cds_end": null,
"cds_length": 888,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Trp292Leu",
"transcript": "ENST00000455702.7",
"protein_id": "ENSP00000402238.3",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 293,
"cds_start": 875,
"cds_end": null,
"cds_length": 882,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Trp287Leu",
"transcript": "NM_001001430.3",
"protein_id": "NP_001001430.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 860,
"cds_end": null,
"cds_length": 867,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Trp287Leu",
"transcript": "NM_001276347.2",
"protein_id": "NP_001263276.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 860,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Trp287Leu",
"transcript": "NM_001406724.1",
"protein_id": "NP_001393653.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 860,
"cds_end": null,
"cds_length": 867,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Trp287Leu",
"transcript": "ENST00000367318.10",
"protein_id": "ENSP00000356287.5",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 860,
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"cdna_start": 932,
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"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Trp287Leu",
"transcript": "ENST00000509001.5",
"protein_id": "ENSP00000422031.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 860,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Trp287Leu",
"transcript": "ENST00000660295.1",
"protein_id": "ENSP00000499418.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 860,
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"cdna_start": 1093,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Trp286Leu",
"transcript": "NM_001406725.1",
"protein_id": "NP_001393654.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 287,
"cds_start": 857,
"cds_end": null,
"cds_length": 864,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.851G>T",
"hgvs_p": "p.Trp284Leu",
"transcript": "NM_001001431.3",
"protein_id": "NP_001001431.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 285,
"cds_start": 851,
"cds_end": null,
"cds_length": 858,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.851G>T",
"hgvs_p": "p.Trp284Leu",
"transcript": "NM_001406726.1",
"protein_id": "NP_001393655.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 285,
"cds_start": 851,
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"cdna_start": 1056,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.851G>T",
"hgvs_p": "p.Trp284Leu",
"transcript": "NM_001406727.1",
"protein_id": "NP_001393656.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 285,
"cds_start": 851,
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"cdna_start": 914,
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"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.851G>T",
"hgvs_p": "p.Trp284Leu",
"transcript": "ENST00000412633.3",
"protein_id": "ENSP00000408731.2",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 285,
"cds_start": 851,
"cds_end": null,
"cds_length": 858,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Trp282Leu",
"transcript": "NM_001406728.1",
"protein_id": "NP_001393657.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 283,
"cds_start": 845,
"cds_end": null,
"cds_length": 852,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
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"exon_count": 10,
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"gene_symbol": "TNNT2",
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"hgvs_c": "n.*249G>T",
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"transcript": "ENST00000662159.1",
"protein_id": "ENSP00000499796.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 14,
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"gene_symbol": "TNNT2",
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"hgvs_c": "n.*790G>T",
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"transcript": "ENST00000663843.1",
"protein_id": "ENSP00000499590.1",
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"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": 1308,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
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"hgvs_c": "n.*135G>T",
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"transcript": "ENST00000666449.1",
"protein_id": "ENSP00000499667.1",
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"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": 1234,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "n.*86G>T",
"hgvs_p": null,
"transcript": "ENST00000714315.1",
"protein_id": "ENSP00000519591.1",
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"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": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"dbsnp": "rs727504247",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12005569785833359,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.9428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.377,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656932.1",
"gene_symbol": "TNNT2",
"hgnc_id": 11949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.890G>T",
"hgvs_p": "p.Trp297Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671234.1",
"gene_symbol": "ENSG00000286600",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.997G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiomyopathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Cardiomyopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}