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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: 6-44221463-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44221463&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44221463,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001304462.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000393844.7",
"protein_id": "ENSP00000377427.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393844.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-381G>A",
"hgvs_p": null,
"transcript": "ENST00000892039.1",
"protein_id": "ENSP00000562098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.87-123G>A",
"hgvs_p": null,
"transcript": "NM_001304462.2",
"protein_id": "NP_001291391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": null,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304462.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.24+1681G>A",
"hgvs_p": null,
"transcript": "NM_001304465.2",
"protein_id": "NP_001291394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304465.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.24+1681G>A",
"hgvs_p": null,
"transcript": "NM_001304466.2",
"protein_id": "NP_001291395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304466.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000967782.1",
"protein_id": "ENSP00000637841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000967781.1",
"protein_id": "ENSP00000637840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000967783.1",
"protein_id": "ENSP00000637842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-55+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000967787.1",
"protein_id": "ENSP00000637846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000892024.1",
"protein_id": "ENSP00000562083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-151-123G>A",
"hgvs_p": null,
"transcript": "ENST00000371713.6",
"protein_id": "ENSP00000360778.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371713.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-162+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000651428.1",
"protein_id": "ENSP00000498610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
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"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-55+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000652680.1",
"protein_id": "ENSP00000498747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
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"cds_length": 1371,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652680.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-159+1681G>A",
"hgvs_p": null,
"transcript": "ENST00000892020.1",
"protein_id": "ENSP00000562079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-261-123G>A",
"hgvs_p": null,
"transcript": "ENST00000892021.1",
"protein_id": "ENSP00000562080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
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"cds_length": 1371,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892021.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-154-123G>A",
"hgvs_p": null,
"transcript": "ENST00000892022.1",
"protein_id": "ENSP00000562081.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-258-123G>A",
"hgvs_p": null,
"transcript": "ENST00000892023.1",
"protein_id": "ENSP00000562082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
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"cds_length": 1371,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892023.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-346-123G>A",
"hgvs_p": null,
"transcript": "ENST00000892028.1",
"protein_id": "ENSP00000562087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892028.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-247-123G>A",
"hgvs_p": null,
"transcript": "ENST00000892031.1",
"protein_id": "ENSP00000562090.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000892031.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-250-123G>A",
"hgvs_p": null,
"transcript": "ENST00000892032.1",
"protein_id": "ENSP00000562091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000892032.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-55+10G>A",
"hgvs_p": null,
"transcript": "ENST00000892034.1",
"protein_id": "ENSP00000562093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-159+13G>A",
"hgvs_p": null,
"transcript": "ENST00000892035.1",
"protein_id": "ENSP00000562094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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{
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"gene_symbol": "SLC29A1",
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"biotype": "retained_intron",
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{
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"protein_coding": true,
"strand": true,
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"upstream_gene_variant"
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"gene_symbol": "SLC29A1",
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"biotype": "protein_coding",
"feature": "ENST00000967794.1"
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],
"gene_symbol": "SLC29A1",
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"dbsnp": "rs3778504",
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"hom_count_reference_population": 226,
"allele_count_reference_population": 9391,
"gnomad_exomes_af": 0.0193795,
"gnomad_genomes_af": 0.030934,
"gnomad_exomes_ac": 4680,
"gnomad_genomes_ac": 4711,
"gnomad_exomes_homalt": 92,
"gnomad_genomes_homalt": 134,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.18,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001304462.2",
"gene_symbol": "SLC29A1",
"hgnc_id": 11003,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.87-123G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}