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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: 9-93450490-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=93450490&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 93450490,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198841.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Pro225Ala",
"transcript": "NM_198841.4",
"protein_id": "NP_942138.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 256,
"cds_start": 673,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": "ENST00000375412.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198841.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Pro225Ala",
"transcript": "ENST00000375412.11",
"protein_id": "ENSP00000364561.5",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 256,
"cds_start": 673,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": "NM_198841.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375412.11"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "c.127C>G",
"hgvs_p": "p.Pro43Ala",
"transcript": "ENST00000423591.5",
"protein_id": "ENSP00000414298.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 74,
"cds_start": 127,
"cds_end": null,
"cds_length": 225,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423591.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.127C>G",
"hgvs_p": null,
"transcript": "ENST00000476484.5",
"protein_id": "ENSP00000429212.1",
"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": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476484.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.690C>G",
"hgvs_p": null,
"transcript": "ENST00000479094.5",
"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": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479094.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.628C>G",
"hgvs_p": null,
"transcript": "ENST00000483149.6",
"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": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483149.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.628C>G",
"hgvs_p": null,
"transcript": "ENST00000520470.5",
"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": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520470.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "c.127C>G",
"hgvs_p": "p.Pro43Ala",
"transcript": "NM_001322224.3",
"protein_id": "NP_001309153.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 74,
"cds_start": 127,
"cds_end": null,
"cds_length": 225,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322224.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Pro42Ala",
"transcript": "ENST00000428378.1",
"protein_id": "ENSP00000416978.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 65,
"cds_start": 124,
"cds_end": null,
"cds_length": 198,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428378.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.268C>G",
"hgvs_p": null,
"transcript": "ENST00000428152.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 830,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000428152.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.374C>G",
"hgvs_p": null,
"transcript": "ENST00000483056.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483056.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.666C>G",
"hgvs_p": null,
"transcript": "ENST00000520403.1",
"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": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520403.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.547C>G",
"hgvs_p": null,
"transcript": "ENST00000523407.1",
"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": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000523407.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.127C>G",
"hgvs_p": null,
"transcript": "ENST00000649557.1",
"protein_id": "ENSP00000496904.1",
"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": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649557.1"
},
{
"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": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.696C>G",
"hgvs_p": null,
"transcript": "ENST00000650398.1",
"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": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000650398.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.972C>G",
"hgvs_p": null,
"transcript": "NR_136229.2",
"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": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136229.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.972C>G",
"hgvs_p": null,
"transcript": "NR_136230.2",
"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": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136230.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.1545C>G",
"hgvs_p": null,
"transcript": "NR_136231.3",
"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": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136231.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.774C>G",
"hgvs_p": null,
"transcript": "NR_136232.3",
"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": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136232.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.718C>G",
"hgvs_p": null,
"transcript": "NR_136233.3",
"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": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136233.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.631C>G",
"hgvs_p": null,
"transcript": "NR_136234.3",
"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": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136234.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
"gene_hgnc_id": 23389,
"hgvs_c": "n.774C>G",
"hgvs_p": null,
"transcript": "NR_136235.3",
"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": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136235.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120AOS",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 4,
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"gene_symbol": "FAM120AOS",
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"biotype": "pseudogene",
"feature": "NR_136238.3"
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],
"gene_symbol": "FAM120AOS",
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"dbsnp": "rs868647846",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140923,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09588935971260071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.485,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198841.4",
"gene_symbol": "FAM120AOS",
"hgnc_id": 23389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Pro225Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}