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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: 17-63434518-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63434518&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63434518,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330421.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "NM_001915.4",
"protein_id": "NP_001906.3",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360793.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001915.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000360793.8",
"protein_id": "ENSP00000354028.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001915.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360793.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Ala267Thr",
"transcript": "ENST00000580691.5",
"protein_id": "ENSP00000462545.1",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 304,
"cds_start": 799,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580691.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000392975.6",
"protein_id": "ENSP00000376701.2",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392975.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000581573.5",
"protein_id": "ENSP00000462325.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581573.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Ala281Thr",
"transcript": "ENST00000542042.5",
"protein_id": "ENSP00000442773.1",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 318,
"cds_start": 841,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542042.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Ala221Thr",
"transcript": "NM_001330421.2",
"protein_id": "NP_001317350.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 258,
"cds_start": 661,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330421.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Ala221Thr",
"transcript": "ENST00000582997.5",
"protein_id": "ENSP00000464215.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 258,
"cds_start": 661,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582997.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "NM_001017916.2",
"protein_id": "NP_001017916.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017916.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "NM_001017917.2",
"protein_id": "NP_001017917.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017917.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000392976.5",
"protein_id": "ENSP00000376702.1",
"transcript_support_level": 3,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392976.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886026.1",
"protein_id": "ENSP00000556085.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886026.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886027.1",
"protein_id": "ENSP00000556086.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886027.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886028.1",
"protein_id": "ENSP00000556087.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886028.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886029.1",
"protein_id": "ENSP00000556088.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886029.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886030.1",
"protein_id": "ENSP00000556089.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886030.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886031.1",
"protein_id": "ENSP00000556090.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886031.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886032.1",
"protein_id": "ENSP00000556091.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886032.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000886033.1",
"protein_id": "ENSP00000556092.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886033.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000963328.1",
"protein_id": "ENSP00000633387.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963328.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000963329.1",
"protein_id": "ENSP00000633388.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 251,
"cds_start": 640,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963329.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000584291.5",
"protein_id": "ENSP00000462543.1",
"transcript_support_level": 3,
"aa_start": 214,
"aa_end": null,
"aa_length": 250,
"cds_start": 640,
"cds_end": null,
"cds_length": 755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584291.5"
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"transcript": "ENST00000963327.1",
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"biotype": "protein_coding",
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},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
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"gene_symbol": "CYB561",
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"hgvs_c": "c.201G>A",
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"protein_id": "ENSP00000464012.1",
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"biotype": "protein_coding",
"feature": "ENST00000585153.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 6,
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"gene_symbol": "CYB561",
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"biotype": "protein_coding",
"feature": "ENST00000584031.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "CYB561",
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"transcript": "ENST00000448884.6",
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"biotype": "protein_coding",
"feature": "ENST00000448884.6"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "CYB561",
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"hgvs_c": "c.563+568G>A",
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"transcript": "ENST00000582297.5",
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"biotype": "protein_coding",
"feature": "ENST00000582297.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "CYB561",
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"hgvs_c": "n.502G>A",
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"transcript": "ENST00000577989.5",
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"biotype": "pseudogene",
"feature": "ENST00000577989.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "CYB561",
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"hgvs_c": "n.612G>A",
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"transcript": "ENST00000581163.5",
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"biotype": "pseudogene",
"feature": "ENST00000581163.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"hgvs_c": "n.391G>A",
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"transcript": "ENST00000582143.1",
"protein_id": null,
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582143.1"
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],
"gene_symbol": "CYB561",
"gene_hgnc_id": 2571,
"dbsnp": "rs369317453",
"frequency_reference_population": 0.000044624594,
"hom_count_reference_population": 0,
"allele_count_reference_population": 72,
"gnomad_exomes_af": 0.0000301114,
"gnomad_genomes_af": 0.000183944,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.046648889780044556,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0712,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.762,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001330421.2",
"gene_symbol": "CYB561",
"hgnc_id": 2571,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Ala221Thr"
}
],
"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
}