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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: 2-86942269-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86942269&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86942269,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "NM_001382344.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.33C>G",
"hgvs_p": "p.Tyr11*",
"transcript": "NM_001382344.1",
"protein_id": "NP_001369273.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1756,
"cds_start": 33,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000641458.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382344.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.33C>G",
"hgvs_p": "p.Tyr11*",
"transcript": "ENST00000641458.2",
"protein_id": "ENSP00000492954.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1756,
"cds_start": 33,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382344.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641458.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.73-9027C>G",
"hgvs_p": null,
"transcript": "ENST00000398193.8",
"protein_id": "ENSP00000381253.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1756,
"cds_start": null,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398193.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.73-9027C>G",
"hgvs_p": null,
"transcript": "NM_001410915.1",
"protein_id": "NP_001397844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1756,
"cds_start": null,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.49-9027C>G",
"hgvs_p": null,
"transcript": "NM_001024457.4",
"protein_id": "NP_001019628.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1748,
"cds_start": null,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024457.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.208-9027C>G",
"hgvs_p": null,
"transcript": "XM_011532845.4",
"protein_id": "XP_011531147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1801,
"cds_start": null,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532845.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.124-9027C>G",
"hgvs_p": null,
"transcript": "XM_011532849.4",
"protein_id": "XP_011531151.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1696,
"cds_start": null,
"cds_end": null,
"cds_length": 5091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532849.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.124-9027C>G",
"hgvs_p": null,
"transcript": "XM_011532850.3",
"protein_id": "XP_011531152.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1684,
"cds_start": null,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532850.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.124-9027C>G",
"hgvs_p": null,
"transcript": "XM_011532851.4",
"protein_id": "XP_011531153.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": null,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532851.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "c.124-9027C>G",
"hgvs_p": null,
"transcript": "XM_011532852.4",
"protein_id": "XP_011531154.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1669,
"cds_start": null,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532852.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "n.*216-9027C>G",
"hgvs_p": null,
"transcript": "ENST00000641339.1",
"protein_id": "ENSP00000492933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "n.140-9027C>G",
"hgvs_p": null,
"transcript": "XR_007074605.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007074605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"hgvs_c": "n.140-9027C>G",
"hgvs_p": null,
"transcript": "XR_007074622.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007074622.1"
}
],
"gene_symbol": "RGPD1",
"gene_hgnc_id": 32414,
"dbsnp": "rs558026351",
"frequency_reference_population": 0.000011824848,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000123711,
"gnomad_genomes_af": 0.00000658831,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.073,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001382344.1",
"gene_symbol": "RGPD1",
"hgnc_id": 32414,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.33C>G",
"hgvs_p": "p.Tyr11*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}