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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: 7-92242059-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92242059&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92242059,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000394505.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_194454.3",
"protein_id": "NP_919436.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000394505.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000394505.7",
"protein_id": "ENSP00000378013.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_194454.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289027",
"gene_hgnc_id": null,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000692281.1",
"protein_id": "ENSP00000510568.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1120,
"cds_start": 77,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000458493.6",
"protein_id": "ENSP00000396352.2",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 896,
"cds_start": 77,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000340022.6",
"protein_id": "ENSP00000344668.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000412043.6",
"protein_id": "ENSP00000410909.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000458177.7",
"protein_id": "ENSP00000391675.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000650585.2",
"protein_id": "ENSP00000498010.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 799,
"cds_start": 77,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "ENST00000691972.1",
"protein_id": "ENSP00000510591.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 799,
"cds_start": 77,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350672.1",
"protein_id": "NP_001337601.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350673.1",
"protein_id": "NP_001337602.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350674.1",
"protein_id": "NP_001337603.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350675.1",
"protein_id": "NP_001337604.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350676.1",
"protein_id": "NP_001337605.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
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"cds_start": 77,
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"cdna_start": 655,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350677.1",
"protein_id": "NP_001337606.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350678.1",
"protein_id": "NP_001337607.1",
"transcript_support_level": null,
"aa_start": 26,
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"cdna_start": 524,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350679.1",
"protein_id": "NP_001337608.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
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"cdna_start": 606,
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"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350680.1",
"protein_id": "NP_001337609.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 486,
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"cdna_length": 4387,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350681.1",
"protein_id": "NP_001337610.1",
"transcript_support_level": null,
"aa_start": 26,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350682.1",
"protein_id": "NP_001337611.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350683.1",
"protein_id": "NP_001337612.1",
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"aa_start": 26,
"aa_end": null,
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"cds_start": 77,
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"cdna_start": 640,
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"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350684.1",
"protein_id": "NP_001337613.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 736,
"cds_start": 77,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln",
"transcript": "NM_001350685.1",
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{
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{
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"exon_count": 5,
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{
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"transcript": "ENST00000692690.1",
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
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{
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"5_prime_UTR_variant"
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"gene_symbol": "KRIT1",
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"hgvs_c": "c.-507G>A",
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"transcript": "NM_001350671.1",
"protein_id": "NP_001337600.1",
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}
],
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"dbsnp": "rs34358665",
"frequency_reference_population": 0.0013275066,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2093,
"gnomad_exomes_af": 0.00137213,
"gnomad_genomes_af": 0.000908827,
"gnomad_exomes_ac": 1955,
"gnomad_genomes_ac": 138,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014538407325744629,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.2216,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.484,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394505.7",
"gene_symbol": "KRIT1",
"hgnc_id": 1573,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000458493.6",
"gene_symbol": "ENSG00000285953",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000692281.1",
"gene_symbol": "ENSG00000289027",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26Gln"
}
],
"clinvar_disease": "Angiokeratoma corporis diffusum with arteriovenous fistulas,Cerebral cavernous malformation,KRIT1-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Angiokeratoma corporis diffusum with arteriovenous fistulas|Cerebral cavernous malformation|not provided|KRIT1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}