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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: 12-56004670-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56004670&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56004670,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000456.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "NM_001032386.2",
"protein_id": "NP_001027558.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266971.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032386.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000266971.8",
"protein_id": "ENSP00000266971.3",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001032386.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266971.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000356124.8",
"protein_id": "ENSP00000348440.4",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356124.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000394109.7",
"protein_id": "ENSP00000377668.3",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394109.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "NM_000456.3",
"protein_id": "NP_000447.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000456.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "NM_001032387.2",
"protein_id": "NP_001027559.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032387.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000394115.6",
"protein_id": "ENSP00000377674.2",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394115.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000548274.5",
"protein_id": "ENSP00000450245.1",
"transcript_support_level": 5,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548274.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886412.1",
"protein_id": "ENSP00000556471.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886412.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886413.1",
"protein_id": "ENSP00000556472.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886413.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886414.1",
"protein_id": "ENSP00000556473.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886414.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886415.1",
"protein_id": "ENSP00000556474.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886415.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886416.1",
"protein_id": "ENSP00000556475.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886416.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886417.1",
"protein_id": "ENSP00000556476.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886417.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886418.1",
"protein_id": "ENSP00000556477.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886418.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886419.1",
"protein_id": "ENSP00000556478.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886419.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886420.1",
"protein_id": "ENSP00000556479.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886420.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886421.1",
"protein_id": "ENSP00000556480.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886421.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886422.1",
"protein_id": "ENSP00000556481.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886422.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886423.1",
"protein_id": "ENSP00000556482.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886423.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886425.1",
"protein_id": "ENSP00000556484.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886425.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000886426.1",
"protein_id": "ENSP00000556485.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886426.1"
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
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"exon_count": 3,
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"gene_symbol": "SUOX",
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"hgvs_c": "c.567G>A",
"hgvs_p": "p.Ser189Ser",
"transcript": "ENST00000886441.1",
"protein_id": "ENSP00000556500.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886441.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SUOX",
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"hgvs_c": "c.567G>A",
"hgvs_p": "p.Ser189Ser",
"transcript": "ENST00000886442.1",
"protein_id": "ENSP00000556501.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886442.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
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"exon_count": 3,
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"gene_symbol": "SUOX",
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"hgvs_c": "c.567G>A",
"hgvs_p": "p.Ser189Ser",
"transcript": "ENST00000954615.1",
"protein_id": "ENSP00000624674.1",
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"biotype": "protein_coding",
"feature": "ENST00000954615.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "c.*469G>A",
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"transcript": "ENST00000551841.6",
"protein_id": "ENSP00000449443.1",
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"aa_end": null,
"aa_length": 104,
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"cds_length": 315,
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"biotype": "protein_coding",
"feature": "ENST00000551841.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 5,
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"intron_rank_end": null,
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"hgvs_c": "n.1281G>A",
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"transcript": "ENST00000550065.1",
"protein_id": "ENSP00000450264.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000550065.1"
}
],
"gene_symbol": "SUOX",
"gene_hgnc_id": 11460,
"dbsnp": "rs773115",
"frequency_reference_population": 0.000004788309,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478831,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 0,
"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,
"splice_prediction_selected": "Benign",
"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": -1.353,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000456.3",
"gene_symbol": "SUOX",
"hgnc_id": 11460,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser"
}
],
"clinvar_disease": "Sulfite oxidase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Sulfite oxidase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}