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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: 3-120750949-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=120750949&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 120750949,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005513.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "NM_005513.3",
"protein_id": "NP_005504.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283875.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005513.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000283875.6",
"protein_id": "ENSP00000283875.5",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005513.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283875.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "n.460A>G",
"hgvs_p": null,
"transcript": "ENST00000497393.1",
"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": "retained_intron",
"feature": "ENST00000497393.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000881964.1",
"protein_id": "ENSP00000552023.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881964.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000881966.1",
"protein_id": "ENSP00000552025.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881966.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932500.1",
"protein_id": "ENSP00000602559.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932500.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932501.1",
"protein_id": "ENSP00000602560.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932501.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932503.1",
"protein_id": "ENSP00000602562.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932503.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932504.1",
"protein_id": "ENSP00000602563.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932504.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932505.1",
"protein_id": "ENSP00000602564.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932505.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932506.1",
"protein_id": "ENSP00000602565.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932506.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932507.1",
"protein_id": "ENSP00000602566.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932507.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932509.1",
"protein_id": "ENSP00000602568.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932509.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932510.1",
"protein_id": "ENSP00000602569.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932510.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000959111.1",
"protein_id": "ENSP00000629170.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959111.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000959112.1",
"protein_id": "ENSP00000629171.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959112.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000959113.1",
"protein_id": "ENSP00000629172.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 439,
"cds_start": 397,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959113.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000881965.1",
"protein_id": "ENSP00000552024.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 436,
"cds_start": 397,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881965.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932508.1",
"protein_id": "ENSP00000602567.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 436,
"cds_start": 397,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932508.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932502.1",
"protein_id": "ENSP00000602561.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 429,
"cds_start": 397,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932502.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly",
"transcript": "ENST00000932511.1",
"protein_id": "ENSP00000602570.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 291,
"cds_start": 397,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932511.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.-54+8155A>G",
"hgvs_p": null,
"transcript": "ENST00000469772.5",
"protein_id": "ENSP00000418808.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.*31A>G",
"hgvs_p": null,
"transcript": "ENST00000492959.1",
"protein_id": "ENSP00000417077.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"hgvs_c": "c.*249A>G",
"hgvs_p": null,
"transcript": "ENST00000484715.1",
"protein_id": "ENSP00000417342.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": null,
"cds_end": null,
"cds_length": 148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484715.1"
}
],
"gene_symbol": "GTF2E1",
"gene_hgnc_id": 4650,
"dbsnp": "rs766880098",
"frequency_reference_population": 0.00004399903,
"hom_count_reference_population": 1,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000465284,
"gnomad_genomes_af": 0.0000197112,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0517747700214386,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0635,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.81,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005513.3",
"gene_symbol": "GTF2E1",
"hgnc_id": 4650,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ser133Gly"
}
],
"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
}