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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: 19-10923605-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10923605&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10923605,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024029.5",
"consequences": [
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "NM_001321439.2",
"protein_id": "NP_001308368.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000586748.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321439.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000586748.6",
"protein_id": "ENSP00000466055.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321439.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586748.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000253031.6",
"protein_id": "ENSP00000253031.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253031.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "NM_024029.5",
"protein_id": "NP_076934.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024029.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000874113.1",
"protein_id": "ENSP00000544172.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874113.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000922039.1",
"protein_id": "ENSP00000592098.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922039.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000922040.1",
"protein_id": "ENSP00000592099.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922040.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000971374.1",
"protein_id": "ENSP00000641433.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971374.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000971376.1",
"protein_id": "ENSP00000641435.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971376.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000971378.1",
"protein_id": "ENSP00000641437.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 316,
"cds_start": 724,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971378.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000922038.1",
"protein_id": "ENSP00000592097.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 315,
"cds_start": 721,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922038.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000922042.1",
"protein_id": "ENSP00000592101.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 315,
"cds_start": 721,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922042.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Arg",
"transcript": "ENST00000874128.1",
"protein_id": "ENSP00000544187.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 313,
"cds_start": 715,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874128.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000874117.1",
"protein_id": "ENSP00000544176.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 311,
"cds_start": 724,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874117.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000874123.1",
"protein_id": "ENSP00000544182.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 311,
"cds_start": 724,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874123.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000971375.1",
"protein_id": "ENSP00000641434.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 311,
"cds_start": 724,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971375.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"transcript": "ENST00000971377.1",
"protein_id": "ENSP00000641436.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 311,
"cds_start": 724,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971377.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Arg",
"transcript": "ENST00000874118.1",
"protein_id": "ENSP00000544177.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 308,
"cds_start": 715,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874118.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Gly231Arg",
"transcript": "ENST00000874131.1",
"protein_id": "ENSP00000544190.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 305,
"cds_start": 691,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874131.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Arg",
"transcript": "ENST00000874116.1",
"protein_id": "ENSP00000544175.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 303,
"cds_start": 685,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874116.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Arg",
"transcript": "ENST00000874121.1",
"protein_id": "ENSP00000544180.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 303,
"cds_start": 685,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874121.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Arg",
"transcript": "ENST00000874124.1",
"protein_id": "ENSP00000544183.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 303,
"cds_start": 685,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "ENST00000971379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
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"hgvs_c": "c.*228G>A",
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"transcript": "ENST00000588347.5",
"protein_id": "ENSP00000468436.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588347.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "c.*232G>A",
"hgvs_p": null,
"transcript": "ENST00000585858.1",
"protein_id": "ENSP00000464839.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"hgvs_c": "n.*237G>A",
"hgvs_p": null,
"transcript": "ENST00000588962.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000588962.1"
}
],
"gene_symbol": "YIPF2",
"gene_hgnc_id": 28476,
"dbsnp": "rs372686960",
"frequency_reference_population": 0.00029262388,
"hom_count_reference_population": 2,
"allele_count_reference_population": 472,
"gnomad_exomes_af": 0.000295749,
"gnomad_genomes_af": 0.000262653,
"gnomad_exomes_ac": 432,
"gnomad_genomes_ac": 40,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08607640862464905,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.6269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.395,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024029.5",
"gene_symbol": "YIPF2",
"hgnc_id": 28476,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg"
}
],
"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
}