← 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: 1-20604981-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20604981&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20604981,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001785.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "NM_001785.3",
"protein_id": "NP_001776.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 146,
"cds_start": 208,
"cds_end": null,
"cds_length": 441,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 809,
"mane_select": "ENST00000375071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001785.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "ENST00000375071.4",
"protein_id": "ENSP00000364212.3",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 146,
"cds_start": 208,
"cds_end": null,
"cds_length": 441,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 809,
"mane_select": "NM_001785.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375071.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser",
"transcript": "ENST00000904801.1",
"protein_id": "ENSP00000574860.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 169,
"cds_start": 208,
"cds_end": null,
"cds_length": 510,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904801.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Ala80Ser",
"transcript": "ENST00000916580.1",
"protein_id": "ENSP00000586639.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 156,
"cds_start": 238,
"cds_end": null,
"cds_length": 471,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916580.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.214G>T",
"hgvs_p": "p.Ala72Ser",
"transcript": "ENST00000904800.1",
"protein_id": "ENSP00000574859.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 148,
"cds_start": 214,
"cds_end": null,
"cds_length": 447,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904800.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.196G>T",
"hgvs_p": "p.Ala66Ser",
"transcript": "ENST00000916579.1",
"protein_id": "ENSP00000586638.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 142,
"cds_start": 196,
"cds_end": null,
"cds_length": 429,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "c.276-8861G>T",
"hgvs_p": null,
"transcript": "ENST00000904802.1",
"protein_id": "ENSP00000574861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"hgvs_c": "n.252G>T",
"hgvs_p": null,
"transcript": "ENST00000461985.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461985.1"
}
],
"gene_symbol": "CDA",
"gene_hgnc_id": 1712,
"dbsnp": "rs60369023",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9207821488380432,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.733,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2446,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.936,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001785.3",
"gene_symbol": "CDA",
"hgnc_id": 1712,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Ala70Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}