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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: 2-88027869-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=88027869&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 88027869,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016618.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "NM_016618.3",
"protein_id": "NP_057702.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347055.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016618.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000347055.4",
"protein_id": "ENSP00000340083.3",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016618.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347055.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "NM_001304526.2",
"protein_id": "NP_001291455.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304526.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000672766.1",
"protein_id": "ENSP00000499834.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672766.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910792.1",
"protein_id": "ENSP00000580851.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910792.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910793.1",
"protein_id": "ENSP00000580852.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910793.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910794.1",
"protein_id": "ENSP00000580853.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910794.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910795.1",
"protein_id": "ENSP00000580854.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910795.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910796.1",
"protein_id": "ENSP00000580855.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910796.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910797.1",
"protein_id": "ENSP00000580856.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910797.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000910798.1",
"protein_id": "ENSP00000580857.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910798.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000912426.1",
"protein_id": "ENSP00000582485.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912426.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000912427.1",
"protein_id": "ENSP00000582486.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000912428.1",
"protein_id": "ENSP00000582487.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912428.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953777.1",
"protein_id": "ENSP00000623836.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953777.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953778.1",
"protein_id": "ENSP00000623837.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953778.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953779.1",
"protein_id": "ENSP00000623838.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953779.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953780.1",
"protein_id": "ENSP00000623839.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953780.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953781.1",
"protein_id": "ENSP00000623840.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953781.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953782.1",
"protein_id": "ENSP00000623841.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953782.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953783.1",
"protein_id": "ENSP00000623842.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953783.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953784.1",
"protein_id": "ENSP00000623843.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953784.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953785.1",
"protein_id": "ENSP00000623844.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953785.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000953786.1",
"protein_id": "ENSP00000623845.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953786.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "XM_017004292.3",
"protein_id": "XP_016859781.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 259,
"cds_start": 695,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004292.3"
}
],
"gene_symbol": "KRCC1",
"gene_hgnc_id": 28039,
"dbsnp": "rs756589562",
"frequency_reference_population": 0.000024176301,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000212182,
"gnomad_genomes_af": 0.0000525831,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11755362153053284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0928,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.038,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016618.3",
"gene_symbol": "KRCC1",
"hgnc_id": 28039,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His"
}
],
"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
}