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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: 2-232480455-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232480455&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ECEL1",
"hgnc_id": 3147,
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_004826.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004826.4",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304546.6",
"protein_coding": true,
"protein_id": "NP_004817.2",
"strand": false,
"transcript": "NM_004826.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304546.6",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004826.4",
"protein_coding": true,
"protein_id": "ENSP00000302051.1",
"strand": false,
"transcript": "ENST00000304546.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 773,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409941.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2165_2166delGGinsAA",
"hgvs_p": "p.Arg722Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386333.1",
"strand": false,
"transcript": "ENST00000409941.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862796.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532855.1",
"strand": false,
"transcript": "ENST00000862796.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931992.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602051.1",
"strand": false,
"transcript": "ENST00000931992.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 2644,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931993.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602052.1",
"strand": false,
"transcript": "ENST00000931993.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931995.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602054.1",
"strand": false,
"transcript": "ENST00000931995.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950077.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2171_2172delGGinsAA",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620136.1",
"strand": false,
"transcript": "ENST00000950077.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 773,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290787.2",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2165_2166delGGinsAA",
"hgvs_p": "p.Arg722Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277716.1",
"strand": false,
"transcript": "NM_001290787.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 751,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 2334,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931994.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2099_2100delGGinsAA",
"hgvs_p": "p.Arg700Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602053.1",
"strand": false,
"transcript": "ENST00000931994.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 743,
"aa_ref": "R",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931991.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.2075_2076delGGinsAA",
"hgvs_p": "p.Arg692Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602050.1",
"strand": false,
"transcript": "ENST00000931991.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 168,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 351,
"cds_end": null,
"cds_length": 507,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000411860.5",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.350_351delGGinsAA",
"hgvs_p": "p.Arg117Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412683.1",
"strand": false,
"transcript": "ENST00000411860.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000482346.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "n.2482_2483delGGinsAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482346.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.814,
"pos": 232480455,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_004826.4"
}
]
}