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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: 1-23692711-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23692711&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23692711,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000643754.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.111delC",
"hgvs_p": "p.Lys38fs",
"transcript": "NM_000975.5",
"protein_id": "NP_000966.2",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 178,
"cds_start": 111,
"cds_end": null,
"cds_length": 537,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": "ENST00000643754.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.111delC",
"hgvs_p": "p.Lys38fs",
"transcript": "ENST00000643754.2",
"protein_id": "ENSP00000496250.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 178,
"cds_start": 111,
"cds_end": null,
"cds_length": 537,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": "NM_000975.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.108delC",
"hgvs_p": "p.Lys37fs",
"transcript": "ENST00000374550.8",
"protein_id": "ENSP00000363676.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 177,
"cds_start": 108,
"cds_end": null,
"cds_length": 534,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.78delC",
"hgvs_p": "p.Lys27fs",
"transcript": "ENST00000458455.2",
"protein_id": "ENSP00000398888.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 167,
"cds_start": 78,
"cds_end": null,
"cds_length": 504,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.105delC",
"hgvs_p": null,
"transcript": "ENST00000482370.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.108delC",
"hgvs_p": "p.Lys37fs",
"transcript": "NM_001199802.1",
"protein_id": "NP_001186731.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 177,
"cds_start": 108,
"cds_end": null,
"cds_length": 534,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.129delC",
"hgvs_p": null,
"transcript": "ENST00000443624.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.*207delC",
"hgvs_p": null,
"transcript": "ENST00000467075.2",
"protein_id": "ENSP00000493634.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.*207delC",
"hgvs_p": null,
"transcript": "ENST00000467075.2",
"protein_id": "ENSP00000493634.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"dbsnp": "rs1553121684",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.337,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000643754.2",
"gene_symbol": "RPL11",
"hgnc_id": 10301,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.111delC",
"hgvs_p": "p.Lys38fs"
}
],
"clinvar_disease": "Diamond-Blackfan anemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Diamond-Blackfan anemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}