← Back to variant description
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: 2-215024541-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215024541&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215024541,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000272895.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.1287+1132A>T",
"hgvs_p": null,
"transcript": "NM_173076.3",
"protein_id": "NP_775099.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2595,
"cds_start": -4,
"cds_end": null,
"cds_length": 7788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": "ENST00000272895.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.1287+1132A>T",
"hgvs_p": null,
"transcript": "ENST00000272895.12",
"protein_id": "ENSP00000272895.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2595,
"cds_start": -4,
"cds_end": null,
"cds_length": 7788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": "NM_173076.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.333+1132A>T",
"hgvs_p": null,
"transcript": "ENST00000389661.4",
"protein_id": "ENSP00000374312.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2277,
"cds_start": -4,
"cds_end": null,
"cds_length": 6834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.333+1132A>T",
"hgvs_p": null,
"transcript": "NM_015657.4",
"protein_id": "NP_056472.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2277,
"cds_start": -4,
"cds_end": null,
"cds_length": 6834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227769",
"gene_hgnc_id": null,
"hgvs_c": "n.373+1315T>A",
"hgvs_p": null,
"transcript": "ENST00000419251.3",
"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": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227769",
"gene_hgnc_id": null,
"hgvs_c": "n.855+1521T>A",
"hgvs_p": null,
"transcript": "ENST00000437897.7",
"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": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227769",
"gene_hgnc_id": null,
"hgvs_c": "n.171+1315T>A",
"hgvs_p": null,
"transcript": "ENST00000615813.3",
"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": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227769",
"gene_hgnc_id": null,
"hgvs_c": "n.84-778T>A",
"hgvs_p": null,
"transcript": "ENST00000627336.2",
"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": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "n.1729+1132A>T",
"hgvs_p": null,
"transcript": "NR_103740.2",
"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": 9378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"hgvs_c": "c.1287+1132A>T",
"hgvs_p": null,
"transcript": "XM_011510951.3",
"protein_id": "XP_011509253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2598,
"cds_start": -4,
"cds_end": null,
"cds_length": 7797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906117",
"gene_hgnc_id": null,
"hgvs_c": "n.*120T>A",
"hgvs_p": null,
"transcript": "XR_007088073.1",
"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": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCA12",
"gene_hgnc_id": 14637,
"dbsnp": "rs4673930",
"frequency_reference_population": 0.0000262857,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000262857,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"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": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.863,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000272895.12",
"gene_symbol": "ABCA12",
"hgnc_id": 14637,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1287+1132A>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419251.3",
"gene_symbol": "ENSG00000227769",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.373+1315T>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007088073.1",
"gene_symbol": "LOC124906117",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*120T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}