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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: 2-177234226-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177234226&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177234226,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000397062.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.91G>C",
"hgvs_p": "p.Gly31Arg",
"transcript": "NM_006164.5",
"protein_id": "NP_006155.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 605,
"cds_start": 91,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000397062.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.91G>C",
"hgvs_p": "p.Gly31Arg",
"transcript": "ENST00000397062.8",
"protein_id": "ENSP00000380252.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 605,
"cds_start": 91,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_006164.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Gly15Arg",
"transcript": "ENST00000397063.9",
"protein_id": "ENSP00000380253.4",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 589,
"cds_start": 43,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Gly15Arg",
"transcript": "ENST00000421929.6",
"protein_id": "ENSP00000412191.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 589,
"cds_start": 43,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Gly15Arg",
"transcript": "ENST00000448782.6",
"protein_id": "ENSP00000400073.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 589,
"cds_start": 43,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Gly15Arg",
"transcript": "ENST00000446151.6",
"protein_id": "ENSP00000411575.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 582,
"cds_start": 43,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.181G>C",
"hgvs_p": null,
"transcript": "ENST00000423513.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.181G>C",
"hgvs_p": null,
"transcript": "ENST00000477534.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000699346.1",
"protein_id": "ENSP00000514321.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 651,
"cds_start": 229,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000586532.6",
"protein_id": "ENSP00000464920.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699265.1",
"protein_id": "ENSP00000514246.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699301.1",
"protein_id": "ENSP00000514281.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699303.1",
"protein_id": "ENSP00000514283.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699304.1",
"protein_id": "ENSP00000514284.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699305.1",
"protein_id": "ENSP00000514285.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699331.1",
"protein_id": "ENSP00000514305.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
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"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699345.1",
"protein_id": "ENSP00000514320.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699348.1",
"protein_id": "ENSP00000514323.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699350.1",
"protein_id": "ENSP00000514324.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
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"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699406.1",
"protein_id": "ENSP00000514367.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
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"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699410.1",
"protein_id": "ENSP00000514371.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000699435.1",
"protein_id": "ENSP00000514387.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.91G>C",
"hgvs_p": "p.Gly31Arg",
"transcript": "ENST00000699264.1",
"protein_id": "ENSP00000514245.1",
"transcript_support_level": null,
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"transcript": "ENST00000699432.1",
"protein_id": "ENSP00000514385.1",
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},
{
"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": 4,
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"gene_symbol": "NFE2L2",
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"hgvs_c": "n.174G>C",
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"transcript": "ENST00000699433.1",
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"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "NFE2L2",
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"hgvs_c": "c.-139G>C",
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"transcript": "NM_001313904.1",
"protein_id": "NP_001300833.1",
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"aa_start": null,
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"aa_length": 505,
"cds_start": -4,
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"cdna_length": 2913,
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"feature": null
}
],
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"dbsnp": "rs1553488015",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8282756805419922,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.7,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM2,PP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS1",
"PM2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000397062.8",
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.91G>C",
"hgvs_p": "p.Gly31Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}