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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: 1-230710247-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230710247&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 230710247,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000366667.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "NM_001384479.1",
"protein_id": "NP_001371408.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 476,
"cds_start": 577,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": "ENST00000366667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000366667.6",
"protein_id": "ENSP00000355627.5",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 476,
"cds_start": 577,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": "NM_001384479.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "NM_001382817.3",
"protein_id": "NP_001369746.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 476,
"cds_start": 577,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000680041.1",
"protein_id": "ENSP00000504866.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 476,
"cds_start": 577,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000681269.1",
"protein_id": "ENSP00000505985.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 476,
"cds_start": 577,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000681514.1",
"protein_id": "ENSP00000505963.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 476,
"cds_start": 577,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000679957.1",
"protein_id": "ENSP00000506646.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 473,
"cds_start": 577,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000679684.1",
"protein_id": "ENSP00000505981.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 420,
"cds_start": 577,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*",
"transcript": "ENST00000680783.1",
"protein_id": "ENSP00000506329.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 285,
"cds_start": 577,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 5004,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "n.577C>T",
"hgvs_p": null,
"transcript": "ENST00000679738.1",
"protein_id": "ENSP00000505063.1",
"transcript_support_level": null,
"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": 4894,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "n.577C>T",
"hgvs_p": null,
"transcript": "ENST00000679802.1",
"protein_id": "ENSP00000505184.1",
"transcript_support_level": null,
"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": 5135,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "n.1088C>T",
"hgvs_p": null,
"transcript": "ENST00000679854.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8609,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "n.1088C>T",
"hgvs_p": null,
"transcript": "ENST00000681347.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6410,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"hgvs_c": "n.577C>T",
"hgvs_p": null,
"transcript": "ENST00000681772.1",
"protein_id": "ENSP00000505829.1",
"transcript_support_level": null,
"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": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGT",
"gene_hgnc_id": 333,
"dbsnp": "rs121912702",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03999999910593033,
"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": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.096,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000366667.6",
"gene_symbol": "AGT",
"hgnc_id": 333,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Gln193*"
}
],
"clinvar_disease": "Renal tubular dysgenesis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Renal tubular dysgenesis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}