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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: 2-232483452-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232483452&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ECEL1",
"hgnc_id": 3147,
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"inheritance_mode": "AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_004826.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Distal arthrogryposis type 5D,See cases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004826.4",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000304546.6",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 773,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409941.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862796.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931992.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000931993.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000931995.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 775,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950077.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 773,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001290787.2",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 751,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931994.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": "*",
"aa_end": null,
"aa_length": 743,
"aa_ref": "W",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1470,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931991.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Trp490*",
"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": 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": 7,
"exon_rank_end": null,
"feature": "ENST00000482346.1",
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"hgvs_c": "n.1781G>A",
"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": "rs149459910",
"effect": "stop_gained",
"frequency_reference_population": 0.000022324833,
"gene_hgnc_id": 3147,
"gene_symbol": "ECEL1",
"gnomad_exomes_ac": 19,
"gnomad_exomes_af": 0.0000130118,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 17,
"gnomad_genomes_af": 0.000111594,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Distal arthrogryposis type 5D|not provided|See cases",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 232483452,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004826.4"
}
]
}