← 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: 3-32997333-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32997333&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 32997333,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000307363.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Trp582*",
"transcript": "NM_000404.4",
"protein_id": "NP_000395.3",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 677,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": "ENST00000307363.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Trp582*",
"transcript": "ENST00000307363.10",
"protein_id": "ENSP00000306920.4",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 677,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": "NM_000404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Trp451*",
"transcript": "ENST00000307377.12",
"protein_id": "ENSP00000305920.8",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 546,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1890G>A",
"hgvs_p": "p.Trp630*",
"transcript": "NM_001317040.2",
"protein_id": "NP_001303969.2",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 725,
"cds_start": 1890,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1656G>A",
"hgvs_p": "p.Trp552*",
"transcript": "NM_001079811.3",
"protein_id": "NP_001073279.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 647,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1656G>A",
"hgvs_p": "p.Trp552*",
"transcript": "ENST00000399402.7",
"protein_id": "ENSP00000382333.2",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 647,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Trp451*",
"transcript": "NM_001135602.3",
"protein_id": "NP_001129074.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 546,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2130,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"hgvs_c": "c.1734+16723G>A",
"hgvs_p": null,
"transcript": "NM_001393580.1",
"protein_id": "NP_001380509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLB1",
"gene_hgnc_id": 4298,
"dbsnp": "rs778375259",
"frequency_reference_population": 0.0000018599899,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136916,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.86,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000307363.10",
"gene_symbol": "GLB1",
"hgnc_id": 4298,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Trp582*"
}
],
"clinvar_disease": " MPS-IV-B,GM1 gangliosidosis,GM1 gangliosidosis type 2,GM1 gangliosidosis type 3,Infantile GM1 gangliosidosis,Mucopolysaccharidosis,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}