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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: 12-109574837-CCTACTGGTGTCTGCTCCGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109574837&ref=CCTACTGGTGTCTGCTCCGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109574837,
"ref": "CCTACTGGTGTCTGCTCCGG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000228510.8",
"consequences": [
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_000431.4",
"protein_id": "NP_000422.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 396,
"cds_start": 16,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000228510.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "ENST00000228510.8",
"protein_id": "ENSP00000228510.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 396,
"cds_start": 16,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_000431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_001414512.1",
"protein_id": "NP_001401441.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 421,
"cds_start": 16,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_001114185.3",
"protein_id": "NP_001107657.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 396,
"cds_start": 16,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_001414511.1",
"protein_id": "NP_001401440.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 396,
"cds_start": 16,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "ENST00000546277.6",
"protein_id": "ENSP00000438153.2",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 396,
"cds_start": 16,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_001414513.1",
"protein_id": "NP_001401442.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 363,
"cds_start": 16,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PTGVCSG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.8_26delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Pro3fs",
"transcript": "ENST00000636996.1",
"protein_id": "ENSP00000490869.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 345,
"cds_start": 8,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 9,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_001301182.2",
"protein_id": "NP_001288111.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 344,
"cds_start": 16,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "ENST00000392727.7",
"protein_id": "ENSP00000376487.3",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 344,
"cds_start": 16,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 67,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "NM_001414514.1",
"protein_id": "NP_001401443.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 311,
"cds_start": 16,
"cds_end": null,
"cds_length": 936,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "ENST00000539335.5",
"protein_id": "ENSP00000440379.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 169,
"cds_start": 16,
"cds_end": null,
"cds_length": 512,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.316_334delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu106fs",
"transcript": "XM_047428873.1",
"protein_id": "XP_047284829.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 496,
"cds_start": 316,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "XM_017019314.2",
"protein_id": "XP_016874803.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
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"cds_start": 16,
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"cdna_start": 912,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLVSAPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs",
"transcript": "XM_017019313.3",
"protein_id": "XP_016874802.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 344,
"cds_start": 16,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000447878.6",
"protein_id": "ENSP00000415555.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.261_279delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000535044.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000537237.5",
"protein_id": "ENSP00000445382.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1296,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000545774.5",
"protein_id": "ENSP00000443978.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000636529.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000697195.1",
"protein_id": "ENSP00000513181.1",
"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": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000697196.1",
"protein_id": "ENSP00000513182.1",
"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": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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},
{
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"strand": true,
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],
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},
{
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],
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},
{
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],
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "MVK",
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"transcript": "NM_001414515.1",
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},
{
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"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-92+965_-92+983delCTACTGGTGTCTGCTCCGG",
"hgvs_p": null,
"transcript": "ENST00000539696.6",
"protein_id": "ENSP00000439134.1",
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"aa_end": null,
"aa_length": 115,
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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"dbsnp": "rs104895334",
"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": 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": 6.794,
"phylop100way_prediction": "Uncertain_significance",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000228510.8",
"gene_symbol": "MVK",
"hgnc_id": 7530,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.16_34delCTACTGGTGTCTGCTCCGG",
"hgvs_p": "p.Leu6fs"
}
],
"clinvar_disease": "Hyperimmunoglobulin D with periodic fever,Mevalonic aciduria",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}