← 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: 1-157802090-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=157802090&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 157802090,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_052938.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "NM_052938.5",
"protein_id": "NP_443170.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 429,
"cds_start": 711,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368176.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052938.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "ENST00000368176.8",
"protein_id": "ENSP00000357158.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 429,
"cds_start": 711,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052938.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368176.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "ENST00000491942.2",
"protein_id": "ENSP00000418130.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 428,
"cds_start": 711,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491942.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "n.477G>C",
"hgvs_p": null,
"transcript": "ENST00000368175.7",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000368175.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "n.932G>C",
"hgvs_p": null,
"transcript": "ENST00000489998.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000489998.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "ENST00000863017.1",
"protein_id": "ENSP00000533076.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 444,
"cds_start": 711,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863017.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "NM_001159398.2",
"protein_id": "NP_001152870.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 428,
"cds_start": 711,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159398.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "ENST00000863016.1",
"protein_id": "ENSP00000533075.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 390,
"cds_start": 711,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863016.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "NM_001159397.2",
"protein_id": "NP_001152869.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 366,
"cds_start": 711,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159397.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "ENST00000358292.7",
"protein_id": "ENSP00000351039.3",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 366,
"cds_start": 711,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358292.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.444G>C",
"hgvs_p": "p.Pro148Pro",
"transcript": "ENST00000863018.1",
"protein_id": "ENSP00000533077.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 340,
"cds_start": 444,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863018.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_011509125.2",
"protein_id": "XP_011507427.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 424,
"cds_start": 711,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509125.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_011509126.2",
"protein_id": "XP_011507428.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 423,
"cds_start": 711,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509126.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.690G>C",
"hgvs_p": "p.Pro230Pro",
"transcript": "XM_011509127.3",
"protein_id": "XP_011507429.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 422,
"cds_start": 690,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509127.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_011509128.2",
"protein_id": "XP_011507430.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 409,
"cds_start": 711,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509128.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_011509129.2",
"protein_id": "XP_011507431.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 408,
"cds_start": 711,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509129.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_005244866.3",
"protein_id": "XP_005244923.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 405,
"cds_start": 711,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244866.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_011509130.2",
"protein_id": "XP_011507432.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 404,
"cds_start": 711,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509130.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_005244867.3",
"protein_id": "XP_005244924.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 390,
"cds_start": 711,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244867.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Pro162Pro",
"transcript": "XM_011509133.3",
"protein_id": "XP_011507435.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 354,
"cds_start": 486,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509133.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Pro162Pro",
"transcript": "XM_011509134.3",
"protein_id": "XP_011507436.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 354,
"cds_start": 486,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509134.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.444G>C",
"hgvs_p": "p.Pro148Pro",
"transcript": "XM_011509135.3",
"protein_id": "XP_011507437.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 340,
"cds_start": 444,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509135.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.423G>C",
"hgvs_p": "p.Pro141Pro",
"transcript": "XM_005244869.4",
"protein_id": "XP_005244926.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 333,
"cds_start": 423,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244869.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro",
"transcript": "XM_011509136.2",
"protein_id": "XP_011507438.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 299,
"cds_start": 711,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509136.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Pro27Pro",
"transcript": "XM_047444001.1",
"protein_id": "XP_047299957.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 219,
"cds_start": 81,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444001.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "c.53-2005G>C",
"hgvs_p": null,
"transcript": "ENST00000863019.1",
"protein_id": "ENSP00000533078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863019.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "n.794G>C",
"hgvs_p": null,
"transcript": "XR_921738.2",
"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": "XR_921738.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"hgvs_c": "n.-123G>C",
"hgvs_p": null,
"transcript": "ENST00000463001.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000463001.5"
}
],
"gene_symbol": "FCRL1",
"gene_hgnc_id": 18509,
"dbsnp": "rs4971154",
"frequency_reference_population": 0.00000136812,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.777,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_052938.5",
"gene_symbol": "FCRL1",
"hgnc_id": 18509,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Pro237Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}