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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: 17-5106167-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5106167&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5106167,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014519.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "NM_014519.6",
"protein_id": "NP_055334.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 444,
"cds_start": 992,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250076.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014519.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "ENST00000250076.8",
"protein_id": "ENSP00000250076.3",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 444,
"cds_start": 992,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014519.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250076.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.Tyr322Cys",
"transcript": "ENST00000575898.5",
"protein_id": "ENSP00000461305.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 435,
"cds_start": 965,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575898.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"transcript": "ENST00000895122.1",
"protein_id": "ENSP00000565181.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 480,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895122.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Tyr358Cys",
"transcript": "ENST00000895124.1",
"protein_id": "ENSP00000565183.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 471,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895124.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.989A>G",
"hgvs_p": "p.Tyr330Cys",
"transcript": "ENST00000916914.1",
"protein_id": "ENSP00000586973.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 443,
"cds_start": 989,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916914.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.Tyr322Cys",
"transcript": "NM_001320952.1",
"protein_id": "NP_001307881.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 435,
"cds_start": 965,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320952.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Tyr319Cys",
"transcript": "ENST00000895123.1",
"protein_id": "ENSP00000565182.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 432,
"cds_start": 956,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895123.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "NM_001320953.2",
"protein_id": "NP_001307882.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 417,
"cds_start": 911,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320953.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "NM_001320954.2",
"protein_id": "NP_001307883.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 417,
"cds_start": 911,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320954.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Tyr303Cys",
"transcript": "NM_001320955.1",
"protein_id": "NP_001307884.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 416,
"cds_start": 908,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320955.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Tyr303Cys",
"transcript": "ENST00000696535.1",
"protein_id": "ENSP00000512696.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 416,
"cds_start": 908,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696535.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Tyr295Cys",
"transcript": "NM_001395551.1",
"protein_id": "NP_001382480.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 408,
"cds_start": 884,
"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": "NM_001395551.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Tyr294Cys",
"transcript": "ENST00000895121.1",
"protein_id": "ENSP00000565180.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 407,
"cds_start": 881,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895121.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.848A>G",
"hgvs_p": "p.Tyr283Cys",
"transcript": "NM_001438840.1",
"protein_id": "NP_001425769.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 396,
"cds_start": 848,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438840.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.848A>G",
"hgvs_p": "p.Tyr283Cys",
"transcript": "ENST00000696536.1",
"protein_id": "ENSP00000512697.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 396,
"cds_start": 848,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696536.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Tyr255Cys",
"transcript": "NM_001395552.1",
"protein_id": "NP_001382481.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 368,
"cds_start": 764,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395552.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.Tyr246Cys",
"transcript": "NM_001395550.1",
"protein_id": "NP_001382479.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 359,
"cds_start": 737,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395550.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Tyr174Cys",
"transcript": "ENST00000916913.1",
"protein_id": "ENSP00000586972.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 287,
"cds_start": 521,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916913.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "XM_047436668.1",
"protein_id": "XP_047292624.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 444,
"cds_start": 992,
"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": "XM_047436668.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "XM_047436669.1",
"protein_id": "XP_047292625.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 444,
"cds_start": 992,
"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": "XM_047436669.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF232",
"gene_hgnc_id": 13026,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "XM_047436670.1",
"protein_id": "XP_047292626.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 444,
"cds_start": 992,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"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_014519.6",
"gene_symbol": "ZNF232",
"hgnc_id": 13026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000413077.4",
"gene_symbol": "ZNF232-AS1",
"hgnc_id": 40623,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-5172T>C",
"hgvs_p": null
}
],
"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
}