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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: 2-230910378-GC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230910378&ref=GC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GPR55",
"hgnc_id": 4511,
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005683.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "GPR55-AS1",
"hgnc_id": 40260,
"hgvs_c": "n.115+1379_115+1380delGCinsAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000770132.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 794,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005683.4",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650999.1",
"protein_coding": true,
"protein_id": "NP_005674.2",
"strand": false,
"transcript": "NM_005683.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 794,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650999.1",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005683.4",
"protein_coding": true,
"protein_id": "ENSP00000498258.1",
"strand": false,
"transcript": "ENST00000650999.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 778,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000622008.4",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482381.1",
"strand": false,
"transcript": "ENST00000622008.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000444078.5",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "n.584_585delGCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000410267.1",
"strand": false,
"transcript": "ENST00000444078.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392039.2",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375893.2",
"strand": false,
"transcript": "ENST00000392039.2",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 778,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392040.5",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375894.1",
"strand": false,
"transcript": "ENST00000392040.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": 793,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886145.1",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556204.1",
"strand": false,
"transcript": "ENST00000886145.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 898,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886146.1",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556205.1",
"strand": false,
"transcript": "ENST00000886146.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 241,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 919,
"cdna_start": 778,
"cds_end": null,
"cds_length": 726,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438398.1",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412768.1",
"strand": false,
"transcript": "ENST00000438398.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 868,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246952.5",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247009.1",
"strand": false,
"transcript": "XM_005246952.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512175.4",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510477.1",
"strand": false,
"transcript": "XM_011512175.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 793,
"cds_end": null,
"cds_length": 960,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512176.3",
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"hgvs_c": "c.584_585delGCinsCT",
"hgvs_p": "p.Gly195Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510478.1",
"strand": false,
"transcript": "XM_011512176.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000770132.1",
"gene_hgnc_id": 40260,
"gene_symbol": "GPR55-AS1",
"hgvs_c": "n.115+1379_115+1380delGCinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000770132.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000770133.1",
"gene_hgnc_id": 40260,
"gene_symbol": "GPR55-AS1",
"hgvs_c": "n.91+1379_91+1380delGCinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000770133.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4511,
"gene_symbol": "GPR55",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.062,
"pos": 230910378,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_005683.4"
}
]
}