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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-54888139-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54888139&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54888139,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002000.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "NM_002000.4",
"protein_id": "NP_001991.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 287,
"cds_start": 494,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355524.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002000.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000355524.8",
"protein_id": "ENSP00000347714.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 287,
"cds_start": 494,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002000.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355524.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Phe",
"transcript": "ENST00000359272.8",
"protein_id": "ENSP00000352218.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 275,
"cds_start": 458,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359272.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000391725.7",
"protein_id": "ENSP00000375605.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 265,
"cds_start": 494,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391725.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Phe",
"transcript": "ENST00000391724.3",
"protein_id": "ENSP00000375604.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 253,
"cds_start": 458,
"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": "ENST00000391724.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "ENST00000469767.5",
"protein_id": "ENSP00000473814.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 239,
"cds_start": 494,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469767.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Phe",
"transcript": "ENST00000391723.7",
"protein_id": "ENSP00000375603.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 209,
"cds_start": 458,
"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": "ENST00000391723.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Phe",
"transcript": "ENST00000353758.8",
"protein_id": "ENSP00000338058.4",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 178,
"cds_start": 167,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353758.8"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.362-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000345937.8",
"protein_id": "ENSP00000338257.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345937.8"
},
{
"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": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.326-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000391726.7",
"protein_id": "ENSP00000375606.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391726.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "n.572C>T",
"hgvs_p": null,
"transcript": "ENST00000482092.6",
"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": "ENST00000482092.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "n.458C>T",
"hgvs_p": null,
"transcript": "ENST00000488066.5",
"protein_id": "ENSP00000474512.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000488066.5"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "n.440-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000471750.2",
"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": "ENST00000471750.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "n.414-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000472634.6",
"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": "ENST00000472634.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Phe",
"transcript": "NM_133272.4",
"protein_id": "NP_579806.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 275,
"cds_start": 458,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133272.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe",
"transcript": "NM_133269.4",
"protein_id": "NP_579803.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 265,
"cds_start": 494,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133269.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Phe",
"transcript": "NM_133278.4",
"protein_id": "NP_579812.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 253,
"cds_start": 458,
"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_133278.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Phe",
"transcript": "NM_133274.4",
"protein_id": "NP_579808.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 209,
"cds_start": 458,
"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": "NM_133274.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Phe",
"transcript": "NM_133277.4",
"protein_id": "NP_579811.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 178,
"cds_start": 167,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133277.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ser138Phe",
"transcript": "XM_011526625.4",
"protein_id": "XP_011524927.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 260,
"cds_start": 413,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526625.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ser138Phe",
"transcript": "XM_017026474.2",
"protein_id": "XP_016881963.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 260,
"cds_start": 413,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026474.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ser138Phe",
"transcript": "XM_047438406.1",
"protein_id": "XP_047294362.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 260,
"cds_start": 413,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438406.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ser138Phe",
"transcript": "XM_047438407.1",
"protein_id": "XP_047294363.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 260,
"cds_start": 413,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438407.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.362-1510C>T",
"hgvs_p": null,
"transcript": "NM_133271.4",
"protein_id": "NP_579805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133271.4"
},
{
"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": "FCAR",
"gene_hgnc_id": 3608,
"hgvs_c": "c.326-1510C>T",
"hgvs_p": null,
"transcript": "NM_133273.4",
"protein_id": "NP_579807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133273.4"
}
],
"gene_symbol": "FCAR",
"gene_hgnc_id": 3608,
"dbsnp": "rs1235954857",
"frequency_reference_population": 0.000009576631,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957663,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17733290791511536,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.1421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.208,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002000.4",
"gene_symbol": "FCAR",
"hgnc_id": 3608,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ser165Phe"
}
],
"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
}