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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: 3-50394129-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50394129&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50394129,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000266039.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_006030.4",
"protein_id": "NP_006021.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1143,
"cds_start": 445,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": "ENST00000424201.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000424201.7",
"protein_id": "ENSP00000390329.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1143,
"cds_start": 445,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": "NM_006030.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000423994.6",
"protein_id": "ENSP00000407393.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 1153,
"cds_start": 445,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000479441.1",
"protein_id": "ENSP00000418081.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1150,
"cds_start": 445,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000266039.7",
"protein_id": "ENSP00000266039.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1145,
"cds_start": 445,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 5476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000360963.7",
"protein_id": "ENSP00000354228.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 1076,
"cds_start": 238,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_001174051.3",
"protein_id": "NP_001167522.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1150,
"cds_start": 445,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_001005505.3",
"protein_id": "NP_001005505.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1145,
"cds_start": 445,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_001410768.1",
"protein_id": "NP_001397697.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1144,
"cds_start": 445,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000429770.5",
"protein_id": "ENSP00000404631.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 1144,
"cds_start": 445,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "NM_001291101.1",
"protein_id": "NP_001278030.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1076,
"cds_start": 238,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_011534243.3",
"protein_id": "XP_011532545.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1151,
"cds_start": 445,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"dbsnp": "rs201935269",
"frequency_reference_population": 0.00030669867,
"hom_count_reference_population": 1,
"allele_count_reference_population": 495,
"gnomad_exomes_af": 0.000320838,
"gnomad_genomes_af": 0.000170868,
"gnomad_exomes_ac": 469,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2622610330581665,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.2136,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.822,
"phylop100way_prediction": "Uncertain_significance",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000266039.7",
"gene_symbol": "CACNA2D2",
"hgnc_id": 1400,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Developmental and epileptic encephalopathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}