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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: 8-33499216-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=33499216&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 33499216,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025115.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg",
"transcript": "NM_001102401.4",
"protein_id": "NP_001095871.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431156.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102401.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg",
"transcript": "ENST00000431156.7",
"protein_id": "ENSP00000411169.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001102401.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431156.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg",
"transcript": "ENST00000613904.1",
"protein_id": "ENSP00000478396.1",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "NM_032509.4",
"protein_id": "NP_115898.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360128.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032509.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "ENST00000360128.11",
"protein_id": "ENSP00000353246.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032509.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360128.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg",
"transcript": "NM_001265581.2",
"protein_id": "NP_001252510.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265581.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg",
"transcript": "NM_025115.5",
"protein_id": "NP_079391.2",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025115.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg",
"transcript": "ENST00000360742.9",
"protein_id": "ENSP00000353971.5",
"transcript_support_level": 2,
"aa_start": 495,
"aa_end": null,
"aa_length": 508,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360742.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Lys493Arg",
"transcript": "ENST00000929793.1",
"protein_id": "ENSP00000599852.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 506,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929793.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Lys493Arg",
"transcript": "ENST00000954159.1",
"protein_id": "ENSP00000624218.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 506,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954159.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Lys464Arg",
"transcript": "NM_001330505.3",
"protein_id": "NP_001317434.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 477,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330505.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Lys464Arg",
"transcript": "NM_001440381.1",
"protein_id": "NP_001427310.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 477,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440381.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Lys464Arg",
"transcript": "ENST00000520636.5",
"protein_id": "ENSP00000428401.1",
"transcript_support_level": 5,
"aa_start": 464,
"aa_end": null,
"aa_length": 477,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520636.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Lys447Arg",
"transcript": "ENST00000897621.1",
"protein_id": "ENSP00000567680.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 460,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897621.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Lys447Arg",
"transcript": "ENST00000897622.1",
"protein_id": "ENSP00000567681.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 460,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897622.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Lys416Arg",
"transcript": "ENST00000897623.1",
"protein_id": "ENSP00000567682.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 429,
"cds_start": 1247,
"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": "ENST00000897623.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Lys416Arg",
"transcript": "ENST00000929794.1",
"protein_id": "ENSP00000599853.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 429,
"cds_start": 1247,
"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": "ENST00000929794.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Lys416Arg",
"transcript": "ENST00000929795.1",
"protein_id": "ENSP00000599854.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 429,
"cds_start": 1247,
"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": "ENST00000929795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "ENST00000929670.1",
"protein_id": "ENSP00000599729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "ENST00000929669.1",
"protein_id": "ENSP00000599728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"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": "ENST00000929669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "ENST00000929668.1",
"protein_id": "ENSP00000599727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "ENST00000954019.1",
"protein_id": "ENSP00000624078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954019.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK16",
"gene_hgnc_id": 13703,
"hgvs_c": "c.*587T>C",
"hgvs_p": null,
"transcript": "ENST00000929667.1",
"protein_id": "ENSP00000599726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"hgvs_c": "n.628+1112A>G",
"hgvs_p": null,
"transcript": "ENST00000519356.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000519356.1"
}
],
"gene_symbol": "TTI2",
"gene_hgnc_id": 26262,
"dbsnp": "rs143113617",
"frequency_reference_population": 0.000058235055,
"hom_count_reference_population": 0,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.0000259949,
"gnomad_genomes_af": 0.000367637,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 56,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015920490026474,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0756,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.032,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_025115.5",
"gene_symbol": "TTI2",
"hgnc_id": 26262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Lys495Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032509.4",
"gene_symbol": "MAK16",
"hgnc_id": 13703,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*587T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}