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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: 10-93600470-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=93600470&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 93600470,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006744.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "NM_006744.4",
"protein_id": "NP_006735.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "ENST00000371464.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006744.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000371464.8",
"protein_id": "ENSP00000360519.3",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": "NM_006744.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371464.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.302G>T",
"hgvs_p": "p.Gly101Val",
"transcript": "ENST00000854018.1",
"protein_id": "ENSP00000524077.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 209,
"cds_start": 302,
"cds_end": null,
"cds_length": 630,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854018.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "NM_001323517.1",
"protein_id": "NP_001310446.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323517.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000371467.5",
"protein_id": "ENSP00000360522.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371467.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854001.1",
"protein_id": "ENSP00000524060.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854001.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854003.1",
"protein_id": "ENSP00000524062.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854003.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854004.1",
"protein_id": "ENSP00000524063.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854004.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854005.1",
"protein_id": "ENSP00000524064.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854005.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854006.1",
"protein_id": "ENSP00000524065.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854006.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854007.1",
"protein_id": "ENSP00000524066.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854007.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854008.1",
"protein_id": "ENSP00000524067.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854008.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854015.1",
"protein_id": "ENSP00000524074.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854015.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854017.1",
"protein_id": "ENSP00000524076.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 201,
"cds_start": 278,
"cds_end": null,
"cds_length": 606,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854017.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.272G>T",
"hgvs_p": "p.Gly91Val",
"transcript": "NM_001323518.2",
"protein_id": "NP_001310447.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 199,
"cds_start": 272,
"cds_end": null,
"cds_length": 600,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323518.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.272G>T",
"hgvs_p": "p.Gly91Val",
"transcript": "ENST00000371469.2",
"protein_id": "ENSP00000360524.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 199,
"cds_start": 272,
"cds_end": null,
"cds_length": 600,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371469.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854011.1",
"protein_id": "ENSP00000524070.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 192,
"cds_start": 278,
"cds_end": null,
"cds_length": 579,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854011.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854013.1",
"protein_id": "ENSP00000524072.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 192,
"cds_start": 278,
"cds_end": null,
"cds_length": 579,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854013.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "ENST00000854014.1",
"protein_id": "ENSP00000524073.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 190,
"cds_start": 245,
"cds_end": null,
"cds_length": 573,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854014.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.221G>T",
"hgvs_p": "p.Gly74Val",
"transcript": "ENST00000854002.1",
"protein_id": "ENSP00000524061.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 182,
"cds_start": 221,
"cds_end": null,
"cds_length": 549,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854002.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.221G>T",
"hgvs_p": "p.Gly74Val",
"transcript": "ENST00000854009.1",
"protein_id": "ENSP00000524068.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 182,
"cds_start": 221,
"cds_end": null,
"cds_length": 549,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854009.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Gly68Val",
"transcript": "ENST00000854016.1",
"protein_id": "ENSP00000524075.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 176,
"cds_start": 203,
"cds_end": null,
"cds_length": 531,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854016.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Gly52Val",
"transcript": "ENST00000960264.1",
"protein_id": "ENSP00000630323.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 160,
"cds_start": 155,
"cds_end": null,
"cds_length": 483,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960264.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854012.1",
"protein_id": "ENSP00000524071.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 155,
"cds_start": 278,
"cds_end": null,
"cds_length": 468,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854012.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000854010.1",
"protein_id": "ENSP00000524069.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 130,
"cds_start": 278,
"cds_end": null,
"cds_length": 393,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FFAR4",
"gene_hgnc_id": 19061,
"hgvs_c": "c.697-3604C>A",
"hgvs_p": null,
"transcript": "ENST00000604414.1",
"protein_id": "ENSP00000474477.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604414.1"
}
],
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"dbsnp": "rs121918585",
"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": 0.8027006387710571,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.652,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9604,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.059,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006744.4",
"gene_symbol": "RBP4",
"hgnc_id": 9922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000604414.1",
"gene_symbol": "FFAR4",
"hgnc_id": 19061,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.697-3604C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}