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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: 2-178673650-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178673650&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178673650,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001267550.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 152,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 11590,
"aa_end": null,
"aa_length": 35991,
"cds_start": 34769,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 34994,
"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": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 152,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 11590,
"aa_end": null,
"aa_length": 35991,
"cds_start": 34769,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 34994,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 152,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 11590,
"aa_end": null,
"aa_length": 35939,
"cds_start": 34769,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 34994,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446966.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 150,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34493A>G",
"hgvs_p": "p.Glu11498Gly",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 11498,
"aa_end": null,
"aa_length": 35899,
"cds_start": 34493,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 34718,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436599.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 152,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 11590,
"aa_end": null,
"aa_length": 35805,
"cds_start": 34769,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 34994,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426232.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 154,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 11590,
"aa_end": null,
"aa_length": 35991,
"cds_start": 34769,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 35258,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412264.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 152,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 11590,
"aa_end": null,
"aa_length": 35963,
"cds_start": 34769,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 34994,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425332.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 149,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.34355A>G",
"hgvs_p": "p.Glu11452Gly",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 11452,
"aa_end": null,
"aa_length": 35853,
"cds_start": 34355,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 34580,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715174.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33647A>G",
"hgvs_p": "p.Glu11216Gly",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 11216,
"aa_end": null,
"aa_length": 34350,
"cds_start": 33647,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 33872,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256850.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 148,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33647A>G",
"hgvs_p": "p.Glu11216Gly",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 11216,
"aa_end": null,
"aa_length": 34350,
"cds_start": 33647,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 33872,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591111.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.30866A>G",
"hgvs_p": "p.Glu10289Gly",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 10289,
"aa_end": null,
"aa_length": 33423,
"cds_start": 30866,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 31091,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133378.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.30866A>G",
"hgvs_p": "p.Glu10289Gly",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 10289,
"aa_end": null,
"aa_length": 33423,
"cds_start": 30866,
"cds_end": null,
"cds_length": 100272,
"cdna_start": 31091,
"cdna_end": null,
"cdna_length": 101520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342992.11"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 150,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33821A>G",
"hgvs_p": "p.Glu11274Gly",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
"transcript_support_level": null,
"aa_start": 11274,
"aa_end": null,
"aa_length": 35622,
"cds_start": 33821,
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"cds_length": 106869,
"cdna_start": 34046,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017004819.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 317,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33278A>G",
"hgvs_p": "p.Glu11093Gly",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
"aa_start": 11093,
"aa_end": null,
"aa_length": 34326,
"cds_start": 33278,
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"cds_length": 102981,
"cdna_start": 33503,
"cdna_end": null,
"cdna_length": 104229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445660.1"
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33278A>G",
"hgvs_p": "p.Glu11093Gly",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 11093,
"aa_end": null,
"aa_length": 34214,
"cds_start": 33278,
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"cdna_start": 33503,
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"biotype": "protein_coding",
"feature": "XM_047445661.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 146,
"exon_rank_end": null,
"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.33278A>G",
"hgvs_p": "p.Glu11093Gly",
"transcript": "XM_024453095.1",
"protein_id": "XP_024308863.1",
"transcript_support_level": null,
"aa_start": 11093,
"aa_end": null,
"aa_length": 34137,
"cds_start": 33278,
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"cdna_start": 33503,
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"cdna_length": 103662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453095.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.30869A>G",
"hgvs_p": "p.Glu10290Gly",
"transcript": "XM_017004820.1",
"protein_id": "XP_016860309.1",
"transcript_support_level": null,
"aa_start": 10290,
"aa_end": null,
"aa_length": 34088,
"cds_start": 30869,
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"cds_length": 102267,
"cdna_start": 31094,
"cdna_end": null,
"cdna_length": 103515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004820.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 147,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.30866A>G",
"hgvs_p": "p.Glu10289Gly",
"transcript": "XM_017004821.1",
"protein_id": "XP_016860310.1",
"transcript_support_level": null,
"aa_start": 10289,
"aa_end": null,
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"cdna_start": 31091,
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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": 140,
"exon_rank_end": null,
"exon_count": 300,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.32708A>G",
"hgvs_p": "p.Glu10903Gly",
"transcript": "XM_047445663.1",
"protein_id": "XP_047301619.1",
"transcript_support_level": null,
"aa_start": 10903,
"aa_end": null,
"aa_length": 33839,
"cds_start": 32708,
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"cdna_start": 32933,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047445663.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 135,
"exon_rank_end": null,
"exon_count": 282,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.32297A>G",
"hgvs_p": "p.Glu10766Gly",
"transcript": "XM_047445665.1",
"protein_id": "XP_047301621.1",
"transcript_support_level": null,
"aa_start": 10766,
"aa_end": null,
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"cds_start": 32297,
"cds_end": null,
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"cdna_start": 32522,
"cdna_end": null,
"cdna_length": 101208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445665.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 129,
"exon_rank_end": null,
"exon_count": 277,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31751A>G",
"hgvs_p": "p.Glu10584Gly",
"transcript": "XM_047445668.1",
"protein_id": "XP_047301624.1",
"transcript_support_level": null,
"aa_start": 10584,
"aa_end": null,
"aa_length": 33178,
"cds_start": 31751,
"cds_end": null,
"cds_length": 99537,
"cdna_start": 31976,
"cdna_end": null,
"cdna_length": 100785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445668.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 130,
"exon_rank_end": null,
"exon_count": 274,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31841A>G",
"hgvs_p": "p.Glu10614Gly",
"transcript": "XM_017004822.1",
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{
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"transcript": "ENST00000702938.2",
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"cdna_start": null,
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"cdna_length": 1012,
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{
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],
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"exon_count": 4,
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"gene_symbol": "TTN-AS1",
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"hgvs_c": "n.711-40104T>C",
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"transcript": "ENST00000768381.1",
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{
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],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LOC124906100",
"gene_hgnc_id": null,
"hgvs_c": "n.2185+29149T>C",
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"transcript": "XR_007087318.1",
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"biotype": "pseudogene",
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}
],
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"dbsnp": "rs201167067",
"frequency_reference_population": 0.0003285662,
"hom_count_reference_population": 0,
"allele_count_reference_population": 524,
"gnomad_exomes_af": 0.000180888,
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"gnomad_exomes_ac": 261,
"gnomad_genomes_ac": 263,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0062622129917144775,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.3178,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.118,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001267550.2",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.34769A>G",
"hgvs_p": "p.Glu11590Gly"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000431752.1",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.124+36952T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_007087318.1",
"gene_symbol": "LOC124906100",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2185+29149T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 9, myofibrillar, with early respiratory failure,6 conditions,Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiomyopathy,Dilated cardiomyopathy 1G,Early-onset myopathy with fatal cardiomyopathy,Myopathy,TTN-related disorder,Tibial muscular dystrophy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:10",
"phenotype_combined": "not specified|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|6 conditions|TTN-related disorder|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}