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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: 2-232847515-C-CCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232847515&ref=C&alt=CCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PVS1",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "GIGYF2",
"hgnc_id": 11960,
"hgvs_c": "c.3692_3693insGC",
"hgvs_p": "p.Gln1232fs",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 8,
"score": -8,
"transcript": "NM_001103147.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PVS1,BP6_Very_Strong,BA1",
"acmg_score": -8,
"allele_count_reference_population": 51353,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " autosomal dominant, susceptibility to,Parkinson disease 11,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7816,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001103146.3",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373563.9",
"protein_coding": true,
"protein_id": "NP_001096616.1",
"strand": true,
"transcript": "NM_001103146.3",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7816,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000373563.9",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001103146.3",
"protein_coding": true,
"protein_id": "ENSP00000362664.5",
"strand": true,
"transcript": "ENST00000373563.9",
"transcript_support_level": 1
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "P",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 3919,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3693,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000409451.7",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3692_3693insGC",
"hgvs_p": "p.Gln1232fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387170.3",
"strand": true,
"transcript": "ENST00000409451.7",
"transcript_support_level": 1
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 3941,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000409547.5",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386537.1",
"strand": true,
"transcript": "ENST00000409547.5",
"transcript_support_level": 1
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "P",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5747,
"cdna_start": 3710,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3612,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000409196.7",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3611_3612insGC",
"hgvs_p": "p.Gln1205fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387070.3",
"strand": true,
"transcript": "ENST00000409196.7",
"transcript_support_level": 1
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "P",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5976,
"cdna_start": 3958,
"cds_end": null,
"cds_length": 3966,
"cds_start": 3696,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000409480.5",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3695_3696insGC",
"hgvs_p": "p.Gln1233fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386765.1",
"strand": true,
"transcript": "ENST00000409480.5",
"transcript_support_level": 5
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "P",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7878,
"cdna_start": 3893,
"cds_end": null,
"cds_length": 3966,
"cds_start": 3696,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000629305.2",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3695_3696insGC",
"hgvs_p": "p.Gln1233fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487548.1",
"strand": true,
"transcript": "ENST00000629305.2",
"transcript_support_level": 5
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "P",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7921,
"cdna_start": 3934,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3693,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001103147.2",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3692_3693insGC",
"hgvs_p": "p.Gln1232fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096617.1",
"strand": true,
"transcript": "NM_001103147.2",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 3941,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_015575.4",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056390.2",
"strand": true,
"transcript": "NM_015575.4",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 3807,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000869690.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539749.1",
"strand": true,
"transcript": "ENST00000869690.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 4020,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000869691.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539750.1",
"strand": true,
"transcript": "ENST00000869691.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000869692.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539751.1",
"strand": true,
"transcript": "ENST00000869692.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5910,
"cdna_start": 3913,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000869693.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539752.1",
"strand": true,
"transcript": "ENST00000869693.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": 4033,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000869695.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539754.1",
"strand": true,
"transcript": "ENST00000869695.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5355,
"cdna_start": 4102,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000869696.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539755.1",
"strand": true,
"transcript": "ENST00000869696.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": 4018,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000869697.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539756.1",
"strand": true,
"transcript": "ENST00000869697.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 3929,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000933239.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603298.1",
"strand": true,
"transcript": "ENST00000933239.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 3990,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000933241.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603300.1",
"strand": true,
"transcript": "ENST00000933241.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6068,
"cdna_start": 4033,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000933242.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603301.1",
"strand": true,
"transcript": "ENST00000933242.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6273,
"cdna_start": 4236,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3630,
"consequences": [
"frameshift_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000933246.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.3629_3630insGC",
"hgvs_p": "p.Gln1211fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603305.1",
"strand": true,
"transcript": "ENST00000933246.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "P",
"aa_start": 1210,
"biotype": "protein_coding",
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