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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: 19-47226728-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47226728&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47226728,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001127240.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "NM_014417.5",
"protein_id": "NP_055232.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "ENST00000439096.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014417.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000439096.3",
"protein_id": "ENSP00000395862.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "NM_014417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439096.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"transcript": "ENST00000449228.5",
"protein_id": "ENSP00000404503.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 261,
"cds_start": 404,
"cds_end": null,
"cds_length": 786,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449228.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000341983.8",
"protein_id": "ENSP00000341155.4",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 131,
"cds_start": 115,
"cds_end": null,
"cds_length": 396,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341983.8"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.89-4810G>A",
"hgvs_p": null,
"transcript": "ENST00000300880.11",
"protein_id": "ENSP00000300880.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300880.11"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu",
"transcript": "NM_001127240.3",
"protein_id": "NP_001120712.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 261,
"cds_start": 404,
"cds_end": null,
"cds_length": 786,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127240.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000899307.1",
"protein_id": "ENSP00000569366.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899307.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000899308.1",
"protein_id": "ENSP00000569367.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899308.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000899309.1",
"protein_id": "ENSP00000569368.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899309.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000899310.1",
"protein_id": "ENSP00000569369.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899310.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000899311.1",
"protein_id": "ENSP00000569370.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899311.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000919804.1",
"protein_id": "ENSP00000589863.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919804.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000919805.1",
"protein_id": "ENSP00000589864.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919805.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "ENST00000919806.1",
"protein_id": "ENSP00000589865.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919806.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "NM_001127241.3",
"protein_id": "NP_001120713.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 131,
"cds_start": 115,
"cds_end": null,
"cds_length": 396,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127241.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "XM_011526722.3",
"protein_id": "XP_011525024.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 209,
"cds_start": 349,
"cds_end": null,
"cds_length": 630,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526722.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "XM_006723141.4",
"protein_id": "XP_006723204.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723141.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Glu101Lys",
"transcript": "XM_047438606.1",
"protein_id": "XP_047294562.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438606.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "c.89-4810G>A",
"hgvs_p": null,
"transcript": "NM_001127242.3",
"protein_id": "NP_001120714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127242.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"hgvs_c": "n.462G>A",
"hgvs_p": null,
"transcript": "ENST00000598636.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000598636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3190",
"gene_hgnc_id": 38190,
"hgvs_c": "n.-214C>T",
"hgvs_p": null,
"transcript": "ENST00000577414.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 80,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000577414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3190",
"gene_hgnc_id": 38190,
"hgvs_c": "n.-214C>T",
"hgvs_p": null,
"transcript": "NR_036158.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 80,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3190",
"gene_hgnc_id": 38190,
"hgvs_c": "n.-227C>T",
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"transcript": "unassigned_transcript_3283",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_3283"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3191",
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"hgvs_c": "n.*216G>A",
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"transcript": "ENST00000636300.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 76,
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"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000636300.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3191",
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"hgvs_c": "n.*216G>A",
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"transcript": "NR_036159.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 76,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3191",
"gene_hgnc_id": 38222,
"hgvs_c": "n.*224G>A",
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"transcript": "unassigned_transcript_3285",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_3285"
}
],
"gene_symbol": "BBC3",
"gene_hgnc_id": 17868,
"dbsnp": null,
"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": 0.1183585524559021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.151,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.182,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001127240.3",
"gene_symbol": "BBC3",
"hgnc_id": 17868,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Gly135Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_036158.1",
"gene_symbol": "MIR3190",
"hgnc_id": 38190,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-214C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_036159.1",
"gene_symbol": "MIR3191",
"hgnc_id": 38222,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*216G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}