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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: 19-920746-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=920746&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 920746,
"ref": "T",
"alt": "C",
"effect": "stop_lost",
"transcript": "ENST00000234371.10",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KISS1R",
"gene_hgnc_id": 4510,
"hgvs_c": "c.1195T>C",
"hgvs_p": "p.Ter399Argext*?",
"transcript": "NM_032551.5",
"protein_id": "NP_115940.2",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 398,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": "ENST00000234371.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KISS1R",
"gene_hgnc_id": 4510,
"hgvs_c": "c.1195T>C",
"hgvs_p": "p.Ter399Argext*?",
"transcript": "ENST00000234371.10",
"protein_id": "ENSP00000234371.3",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 398,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": "NM_032551.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KISS1R",
"gene_hgnc_id": 4510,
"hgvs_c": "c.1378T>C",
"hgvs_p": "p.Ter460Argext*?",
"transcript": "XM_047439545.1",
"protein_id": "XP_047295501.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 459,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KISS1R",
"gene_hgnc_id": 4510,
"hgvs_c": "c.*281T>C",
"hgvs_p": null,
"transcript": "ENST00000606939.2",
"protein_id": "ENSP00000475639.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KISS1R",
"gene_hgnc_id": 4510,
"hgvs_c": "c.*281T>C",
"hgvs_p": null,
"transcript": "ENST00000606939.2",
"protein_id": "ENSP00000475639.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KISS1R",
"gene_hgnc_id": 4510,
"dbsnp": "rs104894702",
"frequency_reference_population": 8.8335474e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 8.83355e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.019999999552965164,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000234371.10",
"gene_symbol": "KISS1R",
"hgnc_id": 4510,
"effects": [
"stop_lost"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1195T>C",
"hgvs_p": "p.Ter399Argext*?"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}