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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: 21-36070375-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36070375&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36070375,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001757.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln",
"transcript": "NM_001757.4",
"protein_id": "NP_001748.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 277,
"cds_start": 260,
"cds_end": null,
"cds_length": 834,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": "ENST00000290349.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001757.4"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln",
"transcript": "ENST00000290349.11",
"protein_id": "ENSP00000290349.6",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 277,
"cds_start": 260,
"cds_end": null,
"cds_length": 834,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": "NM_001757.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290349.11"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln",
"transcript": "ENST00000439427.2",
"protein_id": "ENSP00000395132.2",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 178,
"cds_start": 260,
"cds_end": null,
"cds_length": 537,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439427.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln",
"transcript": "ENST00000530908.5",
"protein_id": "ENSP00000434613.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 173,
"cds_start": 260,
"cds_end": null,
"cds_length": 522,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530908.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.-203+8930A>T",
"hgvs_p": null,
"transcript": "ENST00000399201.5",
"protein_id": "ENSP00000382152.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399201.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln",
"transcript": "ENST00000399191.3",
"protein_id": "ENSP00000382143.3",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 222,
"cds_start": 260,
"cds_end": null,
"cds_length": 669,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399191.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln",
"transcript": "NM_001286789.2",
"protein_id": "NP_001273718.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 173,
"cds_start": 260,
"cds_end": null,
"cds_length": 522,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286789.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"hgvs_c": "n.435T>A",
"hgvs_p": null,
"transcript": "ENST00000466328.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466328.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289001",
"gene_hgnc_id": null,
"hgvs_c": "n.352T>A",
"hgvs_p": null,
"transcript": "ENST00000692721.1",
"protein_id": null,
"transcript_support_level": null,
"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": 677,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBR1-AS1",
"gene_hgnc_id": 55777,
"hgvs_c": "n.488A>T",
"hgvs_p": null,
"transcript": "NR_040084.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040084.1"
}
],
"gene_symbol": "CBR1",
"gene_hgnc_id": 1548,
"dbsnp": "rs1213360369",
"frequency_reference_population": 0.0000027435783,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274358,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9654149413108826,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8399999737739563,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9434,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.246,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.84,
"spliceai_max_prediction": "Pathogenic",
"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_001757.4",
"gene_symbol": "CBR1",
"hgnc_id": 1548,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260T>A",
"hgvs_p": "p.Leu87Gln"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399201.5",
"gene_symbol": "SETD4",
"hgnc_id": 1258,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-203+8930A>T",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_040084.1",
"gene_symbol": "CBR1-AS1",
"hgnc_id": 55777,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.488A>T",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000692721.1",
"gene_symbol": "ENSG00000289001",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.352T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}