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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: 6-44230596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44230596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44230596,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001304462.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "NM_001372327.1",
"protein_id": "NP_001359256.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371755.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372327.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000371755.9",
"protein_id": "ENSP00000360820.3",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372327.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371755.9"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000371708.1",
"protein_id": "ENSP00000360773.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"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": "ENST00000371708.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000393844.7",
"protein_id": "ENSP00000377427.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000371740.10",
"protein_id": "ENSP00000360805.6",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 228,
"cds_start": 618,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371740.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Trp",
"transcript": "ENST00000892045.1",
"protein_id": "ENSP00000562104.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 423,
"cds_start": 598,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892045.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Phe285Phe",
"transcript": "NM_001304462.2",
"protein_id": "NP_001291391.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 535,
"cds_start": 855,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.696C>T",
"hgvs_p": "p.Phe232Phe",
"transcript": "NM_001304465.2",
"protein_id": "NP_001291394.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 482,
"cds_start": 696,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001304466.2",
"protein_id": "NP_001291395.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 481,
"cds_start": 693,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Phe221Phe",
"transcript": "ENST00000892054.1",
"protein_id": "ENSP00000562113.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 471,
"cds_start": 663,
"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": "ENST00000892054.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Phe221Phe",
"transcript": "ENST00000967782.1",
"protein_id": "ENSP00000637841.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 471,
"cds_start": 663,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Phe221Phe",
"transcript": "ENST00000967810.1",
"protein_id": "ENSP00000637869.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 471,
"cds_start": 663,
"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": "ENST00000967810.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000967781.1",
"protein_id": "ENSP00000637840.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 464,
"cds_start": 618,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000916887.1",
"protein_id": "ENSP00000586946.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 462,
"cds_start": 618,
"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": "ENST00000916887.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000967783.1",
"protein_id": "ENSP00000637842.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 462,
"cds_start": 618,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000967787.1",
"protein_id": "ENSP00000637846.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 462,
"cds_start": 618,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000892024.1",
"protein_id": "ENSP00000562083.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 461,
"cds_start": 618,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "NM_001078175.3",
"protein_id": "NP_001071643.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"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": "NM_001078175.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "NM_001078177.2",
"protein_id": "NP_001071645.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"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": "NM_001078177.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000371713.6",
"protein_id": "ENSP00000360778.1",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000371724.6",
"protein_id": "ENSP00000360789.1",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"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": "ENST00000371724.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Phe206Phe",
"transcript": "ENST00000651428.1",
"protein_id": "ENSP00000498610.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 456,
"cds_start": 618,
"cds_end": null,
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{
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{
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{
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"feature": "ENST00000967802.1"
},
{
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"protein_coding": false,
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{
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"protein_coding": false,
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},
{
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],
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"feature": "ENST00000393841.6"
},
{
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],
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"gene_symbol": "SLC29A1",
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},
{
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"gene_symbol": "SLC29A1",
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"transcript": "ENST00000646582.1",
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},
{
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"downstream_gene_variant"
],
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"gene_symbol": "SLC29A1",
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"transcript": "ENST00000642613.1",
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"biotype": "retained_intron",
"feature": "ENST00000642613.1"
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],
"gene_symbol": "SLC29A1",
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"dbsnp": "rs76642036",
"frequency_reference_population": 0.000009295662,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000095771,
"gnomad_genomes_af": 0.00000658605,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.391,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001304462.2",
"gene_symbol": "SLC29A1",
"hgnc_id": 11003,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Phe285Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}