← 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: 12-123621850-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123621850&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123621850,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001414.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Tyr275Cys",
"transcript": "NM_001414.4",
"protein_id": "NP_001405.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 305,
"cds_start": 824,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424014.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Tyr275Cys",
"transcript": "ENST00000424014.7",
"protein_id": "ENSP00000416250.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 305,
"cds_start": 824,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001414.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424014.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "ENST00000929734.1",
"protein_id": "ENSP00000599793.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 345,
"cds_start": 944,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929734.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.860A>G",
"hgvs_p": "p.Tyr287Cys",
"transcript": "ENST00000857210.1",
"protein_id": "ENSP00000527269.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 317,
"cds_start": 860,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857210.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Tyr252Cys",
"transcript": "ENST00000857211.1",
"protein_id": "ENSP00000527270.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 282,
"cds_start": 755,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857211.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Tyr241Cys",
"transcript": "ENST00000958403.1",
"protein_id": "ENSP00000628462.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 271,
"cds_start": 722,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958403.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Tyr189Cys",
"transcript": "ENST00000929735.1",
"protein_id": "ENSP00000599794.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 219,
"cds_start": 566,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"hgvs_c": "c.*100A>G",
"hgvs_p": null,
"transcript": "ENST00000539951.5",
"protein_id": "ENSP00000438060.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539951.5"
}
],
"gene_symbol": "EIF2B1",
"gene_hgnc_id": 3257,
"dbsnp": "rs758746181",
"frequency_reference_population": 0.000035573605,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000355736,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9049392938613892,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.914,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8707,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.997,
"phylop100way_prediction": "Pathogenic",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP3_Moderate,PP5_Very_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 1,
"pathogenic_score": 14,
"criteria": [
"PS3",
"PP3_Moderate",
"PP5_Very_Strong",
"BS1_Supporting"
],
"verdict": "Pathogenic",
"transcript": "NM_001414.4",
"gene_symbol": "EIF2B1",
"hgnc_id": 3257,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Tyr275Cys"
}
],
"clinvar_disease": "Leukoencephalopathy with vanishing white matter 1,Vanishing white matter disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:6",
"phenotype_combined": "Vanishing white matter disease|not provided|Leukoencephalopathy with vanishing white matter 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}