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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: 15-68312822-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68312822&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 68312822,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001004439.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2924C>G",
"hgvs_p": "p.Ser975Trp",
"transcript": "NM_001004439.2",
"protein_id": "NP_001004439.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 10191,
"mane_select": "ENST00000315757.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004439.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2924C>G",
"hgvs_p": "p.Ser975Trp",
"transcript": "ENST00000315757.9",
"protein_id": "ENSP00000327290.7",
"transcript_support_level": 1,
"aa_start": 975,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 10191,
"mane_select": "NM_001004439.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315757.9"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2924C>G",
"hgvs_p": "p.Ser975Trp",
"transcript": "ENST00000423218.6",
"protein_id": "ENSP00000403392.2",
"transcript_support_level": 2,
"aa_start": 975,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 10192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423218.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2876C>G",
"hgvs_p": "p.Ser959Trp",
"transcript": "ENST00000902076.1",
"protein_id": "ENSP00000572135.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902076.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2717C>G",
"hgvs_p": "p.Ser906Trp",
"transcript": "ENST00000902077.1",
"protein_id": "ENSP00000572136.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902077.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2717C>G",
"hgvs_p": "p.Ser906Trp",
"transcript": "XM_011521363.3",
"protein_id": "XP_011519665.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521363.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"hgvs_c": "c.2618C>G",
"hgvs_p": "p.Ser873Trp",
"transcript": "XM_005254228.4",
"protein_id": "XP_005254285.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2618,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 6691,
"cdna_end": null,
"cdna_length": 13861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254228.4"
}
],
"gene_symbol": "ITGA11",
"gene_hgnc_id": 6136,
"dbsnp": "rs267604299",
"frequency_reference_population": 6.84236e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84236e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7712389826774597,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.443,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2294,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.564,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001004439.2",
"gene_symbol": "ITGA11",
"hgnc_id": 6136,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2924C>G",
"hgvs_p": "p.Ser975Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}