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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: 12-53211761-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53211761&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53211761,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000425354.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1280C>A",
"hgvs_p": "p.Ser427*",
"transcript": "NM_000966.6",
"protein_id": "NP_000957.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 454,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": "ENST00000425354.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1280C>A",
"hgvs_p": "p.Ser427*",
"transcript": "ENST00000425354.7",
"protein_id": "ENSP00000388510.2",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 454,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": "NM_000966.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Ser416*",
"transcript": "ENST00000338561.9",
"protein_id": "ENSP00000343698.5",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 443,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1064C>A",
"hgvs_p": "p.Ser355*",
"transcript": "ENST00000394426.5",
"protein_id": "ENSP00000377947.2",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 382,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Ser416*",
"transcript": "NM_001042728.3",
"protein_id": "NP_001036193.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 443,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1214C>A",
"hgvs_p": "p.Ser405*",
"transcript": "NM_001243732.2",
"protein_id": "NP_001230661.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 432,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1214C>A",
"hgvs_p": "p.Ser405*",
"transcript": "ENST00000543726.1",
"protein_id": "ENSP00000444335.1",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 432,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.1064C>A",
"hgvs_p": "p.Ser355*",
"transcript": "NM_001243730.2",
"protein_id": "NP_001230659.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 382,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "c.917C>A",
"hgvs_p": "p.Ser306*",
"transcript": "NM_001243731.2",
"protein_id": "NP_001230660.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 333,
"cds_start": 917,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"hgvs_c": "n.1273C>A",
"hgvs_p": null,
"transcript": "ENST00000543762.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RARG",
"gene_hgnc_id": 9866,
"dbsnp": "rs2229774",
"frequency_reference_population": 7.0636935e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.06369e-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": 0.47999998927116394,
"computational_prediction_selected": "Pathogenic",
"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": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.49,
"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": 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": "ENST00000425354.7",
"gene_symbol": "RARG",
"hgnc_id": 9866,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1280C>A",
"hgvs_p": "p.Ser427*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}