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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: 2-200669666-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200669666&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200669666,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374700.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3890A>T",
"hgvs_p": "p.His1297Leu",
"transcript": "NM_001159.4",
"protein_id": "NP_001150.3",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": "ENST00000374700.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3890A>T",
"hgvs_p": "p.His1297Leu",
"transcript": "ENST00000374700.7",
"protein_id": "ENSP00000363832.2",
"transcript_support_level": 1,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": "NM_001159.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.2629A>T",
"hgvs_p": null,
"transcript": "ENST00000485106.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.His161Leu",
"transcript": "ENST00000260930.10",
"protein_id": "ENSP00000260930.6",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 192,
"cds_start": 482,
"cds_end": null,
"cds_length": 580,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.410A>T",
"hgvs_p": "p.His137Leu",
"transcript": "ENST00000439380.1",
"protein_id": "ENSP00000413326.1",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 190,
"cds_start": 410,
"cds_end": null,
"cds_length": 573,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3890A>T",
"hgvs_p": "p.His1297Leu",
"transcript": "XM_011511062.2",
"protein_id": "XP_011509364.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3824A>T",
"hgvs_p": "p.His1275Leu",
"transcript": "XM_017003946.2",
"protein_id": "XP_016859435.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3824,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3919,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3824A>T",
"hgvs_p": "p.His1275Leu",
"transcript": "XM_017003947.3",
"protein_id": "XP_016859436.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3824,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3919,
"cdna_end": null,
"cdna_length": 4862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.2822A>T",
"hgvs_p": null,
"transcript": "ENST00000465297.5",
"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": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.3985A>T",
"hgvs_p": null,
"transcript": "XR_007073113.1",
"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": 5189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"dbsnp": "rs3731722",
"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": 0.037732720375061035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0624,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.571,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000374700.7",
"gene_symbol": "AOX1",
"hgnc_id": 553,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3890A>T",
"hgvs_p": "p.His1297Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}