← Back to variant description
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: 1-161544934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161544934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161544934,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001127592.2",
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "NM_000569.8",
"protein_id": "NP_000560.7",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443193.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000569.8"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000443193.6",
"protein_id": "ENSP00000392047.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000569.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443193.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "ENST00000699402.1",
"protein_id": "ENSP00000514363.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 155,
"cds_start": 341,
"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": "ENST00000699402.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"transcript": "NM_001127592.2",
"protein_id": "NP_001121064.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 358,
"cds_start": 656,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127592.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.419G>A",
"hgvs_p": "p.Arg140Gln",
"transcript": "ENST00000946731.1",
"protein_id": "ENSP00000616790.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 279,
"cds_start": 419,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946731.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000699401.1",
"protein_id": "ENSP00000514362.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 269,
"cds_start": 344,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699401.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000699398.1",
"protein_id": "ENSP00000514359.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 262,
"cds_start": 344,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699398.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "NM_001127593.1",
"protein_id": "NP_001121065.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127593.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "NM_001127595.2",
"protein_id": "NP_001121067.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127595.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "NM_001329120.2",
"protein_id": "NP_001316049.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329120.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000367967.8",
"protein_id": "ENSP00000356944.3",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367967.8"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000436743.7",
"protein_id": "ENSP00000416607.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436743.7"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000699395.1",
"protein_id": "ENSP00000514356.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699395.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000699396.1",
"protein_id": "ENSP00000514357.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699396.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000699397.1",
"protein_id": "ENSP00000514358.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699397.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000946730.1",
"protein_id": "ENSP00000616789.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 254,
"cds_start": 344,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946730.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "NM_001127596.2",
"protein_id": "NP_001121068.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 253,
"cds_start": 341,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127596.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "NM_001386450.1",
"protein_id": "NP_001373379.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 253,
"cds_start": 341,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386450.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "ENST00000426740.8",
"protein_id": "ENSP00000410180.3",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 253,
"cds_start": 341,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426740.8"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "ENST00000699400.1",
"protein_id": "ENSP00000514361.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 253,
"cds_start": 341,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699400.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "ENST00000884927.1",
"protein_id": "ENSP00000554986.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 253,
"cds_start": 341,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884927.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "ENST00000699399.1",
"protein_id": "ENSP00000514360.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 237,
"cds_start": 293,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699399.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000884930.1",
"protein_id": "ENSP00000554989.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 226,
"cds_start": 344,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884930.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000946733.1",
"protein_id": "ENSP00000616792.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 168,
"cds_start": 86,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946733.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"transcript": "ENST00000442336.2",
"protein_id": "ENSP00000396567.2",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 134,
"cds_start": 341,
"cds_end": null,
"cds_length": 406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442336.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "XM_047449443.1",
"protein_id": "XP_047305399.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 283,
"cds_start": 431,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449443.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138Gln",
"transcript": "XM_047449444.1",
"protein_id": "XP_047305400.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 277,
"cds_start": 413,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449444.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.635-1735G>A",
"hgvs_p": null,
"transcript": "NM_001329122.1",
"protein_id": "NP_001316051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329122.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.320-141G>A",
"hgvs_p": null,
"transcript": "ENST00000946732.1",
"protein_id": "ENSP00000616791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"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": "ENST00000946732.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.320-1735G>A",
"hgvs_p": null,
"transcript": "ENST00000884928.1",
"protein_id": "ENSP00000554987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884928.1"
},
{
"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": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.320-1735G>A",
"hgvs_p": null,
"transcript": "ENST00000946729.1",
"protein_id": "ENSP00000616788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946729.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.317-1735G>A",
"hgvs_p": null,
"transcript": "ENST00000884929.1",
"protein_id": "ENSP00000554988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"transcript": "ENST00000699493.1",
"protein_id": "ENSP00000514404.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000699493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"transcript": "ENST00000699493.1",
"protein_id": "ENSP00000514404.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000699493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273112",
"gene_hgnc_id": null,
"hgvs_c": "n.271+26797C>T",
"hgvs_p": null,
"transcript": "ENST00000537821.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000537821.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310467",
"gene_hgnc_id": null,
"hgvs_c": "n.185+3905C>T",
"hgvs_p": null,
"transcript": "ENST00000850089.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000850089.1"
}
],
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"dbsnp": "rs1031388823",
"frequency_reference_population": 0.000008901963,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000890196,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05250537395477295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.863,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "PM1,PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001127592.2",
"gene_symbol": "FCGR3A",
"hgnc_id": 3619,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000699402.1",
"gene_symbol": "ENSG00000289768",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000850089.1",
"gene_symbol": "ENSG00000310467",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185+3905C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000537821.2",
"gene_symbol": "ENSG00000273112",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.271+26797C>T",
"hgvs_p": null
}
],
"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
}