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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: 3-107710602-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=107710602&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 107710602,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001142568.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "NM_001142568.3",
"protein_id": "NP_001136040.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 941,
"cds_start": 142,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 9009,
"mane_select": "ENST00000325805.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000325805.13",
"protein_id": "ENSP00000319974.8",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 941,
"cds_start": 142,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 9009,
"mane_select": "NM_001142568.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000415149.6",
"protein_id": "ENSP00000408358.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 911,
"cds_start": 142,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000416476.6",
"protein_id": "ENSP00000403860.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 628,
"cds_start": 142,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "NM_020235.7",
"protein_id": "NP_064620.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 911,
"cds_start": 142,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 8919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000406780.5",
"protein_id": "ENSP00000385530.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 911,
"cds_start": 142,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000402543.5",
"protein_id": "ENSP00000385317.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 891,
"cds_start": 142,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "NM_001276286.2",
"protein_id": "NP_001263215.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 628,
"cds_start": 142,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 8000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000402163.6",
"protein_id": "ENSP00000385518.2",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 447,
"cds_start": 142,
"cds_end": null,
"cds_length": 1345,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000456419.5",
"protein_id": "ENSP00000413274.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 204,
"cds_start": 142,
"cds_end": null,
"cds_length": 616,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000427402.5",
"protein_id": "ENSP00000413320.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 192,
"cds_start": 142,
"cds_end": null,
"cds_length": 581,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000429270.1",
"protein_id": "ENSP00000414673.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 165,
"cds_start": 142,
"cds_end": null,
"cds_length": 498,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000449213.5",
"protein_id": "ENSP00000407662.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 158,
"cds_start": 142,
"cds_end": null,
"cds_length": 477,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000413213.5",
"protein_id": "ENSP00000403806.1",
"transcript_support_level": 5,
"aa_start": 48,
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"cds_start": 142,
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"cdna_start": 514,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000449335.5",
"protein_id": "ENSP00000408297.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 142,
"cds_end": null,
"cds_length": 432,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000431630.5",
"protein_id": "ENSP00000392230.1",
"transcript_support_level": 4,
"aa_start": 48,
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"aa_length": 118,
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"cdna_start": 385,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000449271.5",
"protein_id": "ENSP00000406554.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 112,
"cds_start": 142,
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"cds_length": 341,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000458458.5",
"protein_id": "ENSP00000404654.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 96,
"cds_start": 142,
"cds_end": null,
"cds_length": 293,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000457496.5",
"protein_id": "ENSP00000404943.1",
"transcript_support_level": 4,
"aa_start": 48,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000456817.5",
"protein_id": "ENSP00000400543.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
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"cdna_start": 508,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "XM_024453644.2",
"protein_id": "XP_024309412.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 953,
"cds_start": 178,
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"cdna_start": 1384,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Glu60Lys",
"transcript": "XM_024453645.2",
"protein_id": "XP_024309413.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 950,
"cds_start": 178,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "XM_005247642.5",
"protein_id": "XP_005247699.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 941,
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"transcript": "ENST00000472032.1",
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "n.264-34028G>A",
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"transcript": "ENST00000485939.5",
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.*70G>A",
"hgvs_p": null,
"transcript": "ENST00000425868.5",
"protein_id": "ENSP00000412390.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 23,
"cds_start": -4,
"cds_end": null,
"cds_length": 72,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"hgvs_c": "c.*103G>A",
"hgvs_p": null,
"transcript": "ENST00000454540.5",
"protein_id": "ENSP00000396373.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 12,
"cds_start": -4,
"cds_end": null,
"cds_length": 39,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BBX",
"gene_hgnc_id": 14422,
"dbsnp": "rs760926955",
"frequency_reference_population": 0.000037831007,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.000036978,
"gnomad_genomes_af": 0.0000460205,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2906489372253418,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.438,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.195,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142568.3",
"gene_symbol": "BBX",
"hgnc_id": 14422,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys"
}
],
"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
}