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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: 12-122986282-GCG-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122986282&ref=GCG&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PITPNM2",
"hgnc_id": 21044,
"hgvs_c": "c.3970_3972delCGCinsTCT",
"hgvs_p": "p.Arg1324Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001384660.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1349,
"aa_ref": "R",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7134,
"cdna_start": 4332,
"cds_end": null,
"cds_length": 4050,
"cds_start": 3793,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020845.3",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3793_3795delCGCinsTCT",
"hgvs_p": "p.Arg1265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320201.10",
"protein_coding": true,
"protein_id": "NP_065896.1",
"strand": false,
"transcript": "NM_020845.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1349,
"aa_ref": "R",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7134,
"cdna_start": 4332,
"cds_end": null,
"cds_length": 4050,
"cds_start": 3793,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000320201.10",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3793_3795delCGCinsTCT",
"hgvs_p": "p.Arg1265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020845.3",
"protein_coding": true,
"protein_id": "ENSP00000322218.4",
"strand": false,
"transcript": "ENST00000320201.10",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "R",
"aa_start": 1324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7031,
"cdna_start": 4229,
"cds_end": null,
"cds_length": 4227,
"cds_start": 3970,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384660.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3970_3972delCGCinsTCT",
"hgvs_p": "p.Arg1324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371589.1",
"strand": false,
"transcript": "NM_001384660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1349,
"aa_ref": "R",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 4036,
"cds_end": null,
"cds_length": 4050,
"cds_start": 3793,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876870.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3793_3795delCGCinsTCT",
"hgvs_p": "p.Arg1265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546929.1",
"strand": false,
"transcript": "ENST00000876870.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "R",
"aa_start": 1259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7116,
"cdna_start": 4314,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3775,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300801.2",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3775_3777delCGCinsTCT",
"hgvs_p": "p.Arg1259Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287730.1",
"strand": false,
"transcript": "NM_001300801.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "R",
"aa_start": 1259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 4350,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3775,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384668.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3775_3777delCGCinsTCT",
"hgvs_p": "p.Arg1259Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371597.1",
"strand": false,
"transcript": "NM_001384668.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "R",
"aa_start": 1259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6785,
"cdna_start": 3983,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3775,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280562.9",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3775_3777delCGCinsTCT",
"hgvs_p": "p.Arg1259Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280562.5",
"strand": false,
"transcript": "ENST00000280562.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "R",
"aa_start": 1248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6809,
"cdna_start": 4007,
"cds_end": null,
"cds_length": 3999,
"cds_start": 3742,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876869.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3742_3744delCGCinsTCT",
"hgvs_p": "p.Arg1248Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546928.1",
"strand": false,
"transcript": "ENST00000876869.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6972,
"cdna_start": 4170,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3631,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384661.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3631_3633delCGCinsTCT",
"hgvs_p": "p.Arg1211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371590.1",
"strand": false,
"transcript": "NM_001384661.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7008,
"cdna_start": 4206,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3631,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384663.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3631_3633delCGCinsTCT",
"hgvs_p": "p.Arg1211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371592.1",
"strand": false,
"transcript": "NM_001384663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6641,
"cdna_start": 3842,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3631,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876871.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3631_3633delCGCinsTCT",
"hgvs_p": "p.Arg1211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546930.1",
"strand": false,
"transcript": "ENST00000876871.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 4222,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3631,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931311.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3631_3633delCGCinsTCT",
"hgvs_p": "p.Arg1211Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601370.1",
"strand": false,
"transcript": "ENST00000931311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6683,
"cdna_start": 3881,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3622,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384662.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3622_3624delCGCinsTCT",
"hgvs_p": "p.Arg1208Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371591.1",
"strand": false,
"transcript": "NM_001384662.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6723,
"cdna_start": 3921,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3622,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876868.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3622_3624delCGCinsTCT",
"hgvs_p": "p.Arg1208Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546927.1",
"strand": false,
"transcript": "ENST00000876868.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6957,
"cdna_start": 4155,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3580,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384664.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3580_3582delCGCinsTCT",
"hgvs_p": "p.Arg1194Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371593.1",
"strand": false,
"transcript": "NM_001384664.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "R",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7112,
"cdna_start": 4310,
"cds_end": null,
"cds_length": 4308,
"cds_start": 4051,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449099.2",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.4051_4053delCGCinsTCT",
"hgvs_p": "p.Arg1351Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304867.1",
"strand": false,
"transcript": "XM_024449099.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "R",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7392,
"cdna_start": 4590,
"cds_end": null,
"cds_length": 4308,
"cds_start": 4051,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047429200.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.4051_4053delCGCinsTCT",
"hgvs_p": "p.Arg1351Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285156.1",
"strand": false,
"transcript": "XM_047429200.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "R",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10795,
"cdna_start": 7993,
"cds_end": null,
"cds_length": 4308,
"cds_start": 4051,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047429201.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.4051_4053delCGCinsTCT",
"hgvs_p": "p.Arg1351Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285157.1",
"strand": false,
"transcript": "XM_047429201.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "R",
"aa_start": 1319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7169,
"cdna_start": 4367,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3955,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047429202.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3955_3957delCGCinsTCT",
"hgvs_p": "p.Arg1319Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285158.1",
"strand": false,
"transcript": "XM_047429202.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1387,
"aa_ref": "R",
"aa_start": 1303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7121,
"cdna_start": 4319,
"cds_end": null,
"cds_length": 4164,
"cds_start": 3907,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047429203.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.3907_3909delCGCinsTCT",
"hgvs_p": "p.Arg1303Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285159.1",
"strand": false,
"transcript": "XM_047429203.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1386,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7118,
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