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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: 12-111705901-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111705901&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111705901,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000313698.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Phe167Tyr",
"transcript": "NM_025247.6",
"protein_id": "NP_079523.3",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1059,
"cds_start": 500,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": "ENST00000313698.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Phe167Tyr",
"transcript": "ENST00000313698.9",
"protein_id": "ENSP00000325137.5",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1059,
"cds_start": 500,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": "NM_025247.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Phe167Tyr",
"transcript": "ENST00000455480.6",
"protein_id": "ENSP00000389813.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1090,
"cds_start": 500,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 4071,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "n.672T>A",
"hgvs_p": null,
"transcript": "ENST00000507135.5",
"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": 1342,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "n.685T>A",
"hgvs_p": null,
"transcript": "ENST00000509936.5",
"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": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Phe167Tyr",
"transcript": "NM_001136538.2",
"protein_id": "NP_001130010.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1090,
"cds_start": 500,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Phe167Tyr",
"transcript": "ENST00000549590.5",
"protein_id": "ENSP00000446959.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 710,
"cds_start": 500,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2888,
"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": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "n.685T>A",
"hgvs_p": null,
"transcript": "ENST00000413681.7",
"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": 2951,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "n.26T>A",
"hgvs_p": null,
"transcript": "ENST00000502746.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"hgvs_c": "c.-108+19662T>A",
"hgvs_p": null,
"transcript": "ENST00000515283.1",
"protein_id": "ENSP00000449097.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACAD10",
"gene_hgnc_id": 21597,
"dbsnp": "rs374287121",
"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": 0.43057191371917725,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.2831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.161,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "ENST00000313698.9",
"gene_symbol": "ACAD10",
"hgnc_id": 21597,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Phe167Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}