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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: 12-101661240-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101661240&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101661240,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000361466.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2010C>T",
"hgvs_p": "p.Tyr670Tyr",
"transcript": "NM_002465.4",
"protein_id": "NP_002456.2",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2010,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": "ENST00000361466.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2010C>T",
"hgvs_p": "p.Tyr670Tyr",
"transcript": "ENST00000361466.7",
"protein_id": "ENSP00000354849.2",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2010,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": "NM_002465.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2010C>T",
"hgvs_p": "p.Tyr670Tyr",
"transcript": "ENST00000361685.6",
"protein_id": "ENSP00000354845.2",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2010,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "ENST00000545503.6",
"protein_id": "ENSP00000440034.2",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 1146,
"cds_start": 1935,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Tyr633Tyr",
"transcript": "ENST00000541119.5",
"protein_id": "ENSP00000442847.1",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 1134,
"cds_start": 1899,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1878C>T",
"hgvs_p": "p.Tyr626Tyr",
"transcript": "ENST00000536007.5",
"protein_id": "ENSP00000446128.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1878,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "ENST00000553190.5",
"protein_id": "ENSP00000447900.1",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1935,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1857C>T",
"hgvs_p": "p.Tyr619Tyr",
"transcript": "ENST00000547405.5",
"protein_id": "ENSP00000448175.1",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 1120,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1638C>T",
"hgvs_p": "p.Tyr546Tyr",
"transcript": "ENST00000551300.5",
"protein_id": "ENSP00000447116.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 1024,
"cds_start": 1638,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2010C>T",
"hgvs_p": "p.Tyr670Tyr",
"transcript": "NM_001404675.1",
"protein_id": "NP_001391604.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2010,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "NM_001254718.3",
"protein_id": "NP_001241647.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1935,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "ENST00000452455.6",
"protein_id": "ENSP00000400908.2",
"transcript_support_level": 2,
"aa_start": 645,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1935,
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"cds_length": 3522,
"cdna_start": 2037,
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"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1974C>T",
"hgvs_p": "p.Tyr658Tyr",
"transcript": "ENST00000549145.5",
"protein_id": "ENSP00000447660.1",
"transcript_support_level": 5,
"aa_start": 658,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1974,
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"cdna_start": 2074,
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"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2010C>T",
"hgvs_p": "p.Tyr670Tyr",
"transcript": "NM_206819.4",
"protein_id": "NP_996555.1",
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"cdna_start": 2110,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "NM_001254719.3",
"protein_id": "NP_001241648.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1146,
"cds_start": 1935,
"cds_end": null,
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"cdna_start": 2035,
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"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "NM_206820.4",
"protein_id": "NP_996556.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "ENST00000550270.1",
"protein_id": "ENSP00000449702.1",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1935,
"cds_end": null,
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"cdna_start": 1935,
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"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1896C>T",
"hgvs_p": "p.Tyr632Tyr",
"transcript": "NM_001254723.3",
"protein_id": "NP_001241652.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1896,
"cds_end": null,
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"cdna_start": 1996,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"aa_alt": "Y",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1896C>T",
"hgvs_p": "p.Tyr632Tyr",
"transcript": "ENST00000392934.7",
"protein_id": "ENSP00000376665.3",
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Tyr633Tyr",
"transcript": "NM_001254720.3",
"protein_id": "NP_001241649.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
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"cds_start": 1899,
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"cdna_start": 1999,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1878C>T",
"hgvs_p": "p.Tyr626Tyr",
"transcript": "NM_001404676.1",
"protein_id": "NP_001391605.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1133,
"cds_start": 1878,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Tyr631Tyr",
"transcript": "ENST00000547509.5",
"protein_id": "ENSP00000447362.1",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 1132,
"cds_start": 1893,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 975,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257514",
"gene_hgnc_id": null,
"hgvs_c": "n.72-845G>A",
"hgvs_p": null,
"transcript": "ENST00000774501.1",
"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": 716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902996",
"gene_hgnc_id": null,
"hgvs_c": "n.85-845G>A",
"hgvs_p": null,
"transcript": "XR_007063422.1",
"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": 420,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902996",
"gene_hgnc_id": null,
"hgvs_c": "n.85-832G>A",
"hgvs_p": null,
"transcript": "XR_007063423.1",
"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": 327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"dbsnp": "rs77045393",
"frequency_reference_population": 0.0015334189,
"hom_count_reference_population": 29,
"allele_count_reference_population": 2472,
"gnomad_exomes_af": 0.000910389,
"gnomad_genomes_af": 0.0075065,
"gnomad_exomes_ac": 1329,
"gnomad_genomes_ac": 1143,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.262,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000361466.7",
"gene_symbol": "MYBPC1",
"hgnc_id": 7549,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2010C>T",
"hgvs_p": "p.Tyr670Tyr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000774501.1",
"gene_symbol": "ENSG00000257514",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.72-845G>A",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007063422.1",
"gene_symbol": "LOC124902996",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.85-845G>A",
"hgvs_p": null
}
],
"clinvar_disease": " distal, type 1B,Arthrogryposis,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "not specified|not provided|Arthrogryposis, distal, type 1B",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}