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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: 11-27700188-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27700188&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 27700188,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000356660.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-46C>T",
"hgvs_p": null,
"transcript": "NM_001709.5",
"protein_id": "NP_001700.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": "ENST00000356660.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-46C>T",
"hgvs_p": null,
"transcript": "ENST00000356660.9",
"protein_id": "ENSP00000349084.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": "NM_001709.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-153C>T",
"hgvs_p": null,
"transcript": "ENST00000418212.5",
"protein_id": "ENSP00000400502.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-28C>T",
"hgvs_p": null,
"transcript": "ENST00000533246.5",
"protein_id": "ENSP00000432376.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-59+783C>T",
"hgvs_p": null,
"transcript": "ENST00000438929.5",
"protein_id": "ENSP00000414303.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.3+21224C>T",
"hgvs_p": null,
"transcript": "ENST00000314915.6",
"protein_id": "ENSP00000320002.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+20241C>T",
"hgvs_p": null,
"transcript": "ENST00000395978.7",
"protein_id": "ENSP00000379302.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+20158C>T",
"hgvs_p": null,
"transcript": "ENST00000395981.7",
"protein_id": "ENSP00000379305.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+783C>T",
"hgvs_p": null,
"transcript": "ENST00000395983.7",
"protein_id": "ENSP00000379307.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+20456C>T",
"hgvs_p": null,
"transcript": "ENST00000525950.5",
"protein_id": "ENSP00000432035.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 247,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+488C>T",
"hgvs_p": null,
"transcript": "ENST00000530861.5",
"protein_id": "ENSP00000435564.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
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"hgvs_c": "c.-22+19323C>T",
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"transcript": "ENST00000532997.5",
"protein_id": "ENSP00000435805.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000255496",
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"hgvs_c": "n.148-3666C>T",
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"transcript": "ENST00000530663.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "n.-59+783C>T",
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"transcript": "ENST00000530786.5",
"protein_id": "ENSP00000433003.1",
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},
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],
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"hgvs_c": "n.337+1109C>T",
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"transcript": "ENST00000584049.5",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-28C>T",
"hgvs_p": null,
"transcript": "NM_001143813.2",
"protein_id": "NP_001137285.1",
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},
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],
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "BDNF",
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"hgvs_c": "c.-59+783C>T",
"hgvs_p": null,
"transcript": "NM_001143810.2",
"protein_id": "NP_001137282.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.66+783C>T",
"hgvs_p": null,
"transcript": "NM_001143809.2",
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],
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"hgvs_c": "c.3+21224C>T",
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],
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"hgvs_c": "c.-22+20456C>T",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "BDNF",
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"hgvs_c": "c.-22+20241C>T",
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"transcript": "NM_001143806.1",
"protein_id": "NP_001137278.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+19323C>T",
"hgvs_p": null,
"transcript": "NM_001143807.2",
"protein_id": "NP_001137279.1",
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},
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"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+793C>T",
"hgvs_p": null,
"transcript": "NM_001143808.2",
"protein_id": "NP_001137280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
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"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-422+783C>T",
"hgvs_p": null,
"transcript": "NM_001143811.2",
"protein_id": "NP_001137283.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+488C>T",
"hgvs_p": null,
"transcript": "NM_001143812.2",
"protein_id": "NP_001137284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+20158C>T",
"hgvs_p": null,
"transcript": "NM_170732.4",
"protein_id": "NP_733928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+1109C>T",
"hgvs_p": null,
"transcript": "NM_170733.4",
"protein_id": "NP_733929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"dbsnp": "rs56164415",
"frequency_reference_population": 0.06251839,
"hom_count_reference_population": 2438,
"allele_count_reference_population": 61620,
"gnomad_exomes_af": 0.0627833,
"gnomad_genomes_af": 0.0610676,
"gnomad_exomes_ac": 52326,
"gnomad_genomes_ac": 9294,
"gnomad_exomes_homalt": 2038,
"gnomad_genomes_homalt": 400,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.05000000074505806,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"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": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.486,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000356660.9",
"gene_symbol": "BDNF",
"hgnc_id": 1033,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-46C>T",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000530663.1",
"gene_symbol": "ENSG00000255496",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.148-3666C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Variant of unknown significance",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Variant of unknown significance",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}