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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: 10-93594010-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=93594010&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 93594010,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006744.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "NM_006744.4",
"protein_id": "NP_006735.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371464.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006744.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000371464.8",
"protein_id": "ENSP00000360519.3",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006744.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371464.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.405A>G",
"hgvs_p": "p.Thr135Thr",
"transcript": "ENST00000854018.1",
"protein_id": "ENSP00000524077.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 209,
"cds_start": 405,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854018.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "NM_001323517.1",
"protein_id": "NP_001310446.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323517.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000371467.5",
"protein_id": "ENSP00000360522.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371467.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854001.1",
"protein_id": "ENSP00000524060.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854001.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854003.1",
"protein_id": "ENSP00000524062.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854003.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854004.1",
"protein_id": "ENSP00000524063.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854004.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854005.1",
"protein_id": "ENSP00000524064.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854005.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854006.1",
"protein_id": "ENSP00000524065.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854006.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854007.1",
"protein_id": "ENSP00000524066.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854007.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854008.1",
"protein_id": "ENSP00000524067.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854008.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854015.1",
"protein_id": "ENSP00000524074.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854015.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000854017.1",
"protein_id": "ENSP00000524076.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 201,
"cds_start": 381,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854017.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.375A>G",
"hgvs_p": "p.Thr125Thr",
"transcript": "NM_001323518.2",
"protein_id": "NP_001310447.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 199,
"cds_start": 375,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323518.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.375A>G",
"hgvs_p": "p.Thr125Thr",
"transcript": "ENST00000371469.2",
"protein_id": "ENSP00000360524.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 199,
"cds_start": 375,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371469.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.348A>G",
"hgvs_p": "p.Thr116Thr",
"transcript": "ENST00000854014.1",
"protein_id": "ENSP00000524073.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 190,
"cds_start": 348,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854014.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.324A>G",
"hgvs_p": "p.Thr108Thr",
"transcript": "ENST00000854002.1",
"protein_id": "ENSP00000524061.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 182,
"cds_start": 324,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854002.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.324A>G",
"hgvs_p": "p.Thr108Thr",
"transcript": "ENST00000854009.1",
"protein_id": "ENSP00000524068.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 182,
"cds_start": 324,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854009.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.306A>G",
"hgvs_p": "p.Thr102Thr",
"transcript": "ENST00000854016.1",
"protein_id": "ENSP00000524075.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 306,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854016.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.258A>G",
"hgvs_p": "p.Thr86Thr",
"transcript": "ENST00000960264.1",
"protein_id": "ENSP00000630323.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 160,
"cds_start": 258,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960264.1"
},
{
"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.697-10064T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.356-2A>G",
"hgvs_p": null,
"transcript": "ENST00000854011.1",
"protein_id": "ENSP00000524070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.356-2A>G",
"hgvs_p": null,
"transcript": "ENST00000854013.1",
"protein_id": "ENSP00000524072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.356-113A>G",
"hgvs_p": null,
"transcript": "ENST00000854012.1",
"protein_id": "ENSP00000524071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"hgvs_c": "c.356-1898A>G",
"hgvs_p": null,
"transcript": "ENST00000854010.1",
"protein_id": "ENSP00000524069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854010.1"
}
],
"gene_symbol": "RBP4",
"gene_hgnc_id": 9922,
"dbsnp": "rs34812400",
"frequency_reference_population": 0.0080969,
"hom_count_reference_population": 694,
"allele_count_reference_population": 13066,
"gnomad_exomes_af": 0.00481782,
"gnomad_genomes_af": 0.0395715,
"gnomad_exomes_ac": 7041,
"gnomad_genomes_ac": 6025,
"gnomad_exomes_homalt": 333,
"gnomad_genomes_homalt": 361,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.007,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_006744.4",
"gene_symbol": "RBP4",
"hgnc_id": 9922,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.381A>G",
"hgvs_p": "p.Thr127Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000604414.1",
"gene_symbol": "FFAR4",
"hgnc_id": 19061,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.697-10064T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}