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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: 17-5106240-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5106240&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5106240,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014519.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "NM_014519.6",
"protein_id": "NP_055334.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 919,
"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": "E",
"aa_alt": "K",
"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.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "ENST00000250076.8",
"protein_id": "ENSP00000250076.3",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 919,
"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": "E",
"aa_alt": "K",
"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.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000575898.5",
"protein_id": "ENSP00000461305.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 435,
"cds_start": 892,
"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": "E",
"aa_alt": "K",
"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.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000895122.1",
"protein_id": "ENSP00000565181.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 480,
"cds_start": 1027,
"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": "E",
"aa_alt": "K",
"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.1000G>A",
"hgvs_p": "p.Glu334Lys",
"transcript": "ENST00000895124.1",
"protein_id": "ENSP00000565183.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 471,
"cds_start": 1000,
"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": "E",
"aa_alt": "K",
"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.916G>A",
"hgvs_p": "p.Glu306Lys",
"transcript": "ENST00000916914.1",
"protein_id": "ENSP00000586973.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 443,
"cds_start": 916,
"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": "E",
"aa_alt": "K",
"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.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "NM_001320952.1",
"protein_id": "NP_001307881.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 435,
"cds_start": 892,
"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": "E",
"aa_alt": "K",
"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.883G>A",
"hgvs_p": "p.Glu295Lys",
"transcript": "ENST00000895123.1",
"protein_id": "ENSP00000565182.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 432,
"cds_start": 883,
"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": "E",
"aa_alt": "K",
"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.838G>A",
"hgvs_p": "p.Glu280Lys",
"transcript": "NM_001320953.2",
"protein_id": "NP_001307882.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 417,
"cds_start": 838,
"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": "E",
"aa_alt": "K",
"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.838G>A",
"hgvs_p": "p.Glu280Lys",
"transcript": "NM_001320954.2",
"protein_id": "NP_001307883.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 417,
"cds_start": 838,
"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": "E",
"aa_alt": "K",
"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.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001320955.1",
"protein_id": "NP_001307884.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 416,
"cds_start": 835,
"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": "E",
"aa_alt": "K",
"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.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000696535.1",
"protein_id": "ENSP00000512696.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 416,
"cds_start": 835,
"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": "E",
"aa_alt": "K",
"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.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "NM_001395551.1",
"protein_id": "NP_001382480.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 408,
"cds_start": 811,
"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": "E",
"aa_alt": "K",
"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.808G>A",
"hgvs_p": "p.Glu270Lys",
"transcript": "ENST00000895121.1",
"protein_id": "ENSP00000565180.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 407,
"cds_start": 808,
"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": "E",
"aa_alt": "K",
"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.775G>A",
"hgvs_p": "p.Glu259Lys",
"transcript": "NM_001438840.1",
"protein_id": "NP_001425769.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 396,
"cds_start": 775,
"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": "E",
"aa_alt": "K",
"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.775G>A",
"hgvs_p": "p.Glu259Lys",
"transcript": "ENST00000696536.1",
"protein_id": "ENSP00000512697.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 396,
"cds_start": 775,
"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": "E",
"aa_alt": "K",
"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.691G>A",
"hgvs_p": "p.Glu231Lys",
"transcript": "NM_001395552.1",
"protein_id": "NP_001382481.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 368,
"cds_start": 691,
"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": "E",
"aa_alt": "K",
"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.664G>A",
"hgvs_p": "p.Glu222Lys",
"transcript": "NM_001395550.1",
"protein_id": "NP_001382479.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 359,
"cds_start": 664,
"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": "E",
"aa_alt": "K",
"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.448G>A",
"hgvs_p": "p.Glu150Lys",
"transcript": "ENST00000916913.1",
"protein_id": "ENSP00000586972.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 448,
"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": "E",
"aa_alt": "K",
"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.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "XM_047436668.1",
"protein_id": "XP_047292624.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 919,
"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": "E",
"aa_alt": "K",
"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.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "XM_047436669.1",
"protein_id": "XP_047292625.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 919,
"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": "E",
"aa_alt": "K",
"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.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "XM_047436670.1",
"protein_id": "XP_047292626.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 919,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"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.919G>A",
"hgvs_p": "p.Glu307Lys"
},
{
"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.259-5099C>T",
"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
}