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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: 15-100629944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=100629944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 100629944,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198243.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "NM_198243.3",
"protein_id": "NP_937886.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332783.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198243.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "ENST00000332783.12",
"protein_id": "ENSP00000328327.8",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198243.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332783.12"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "ENST00000343276.4",
"protein_id": "ENSP00000339819.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 274,
"cds_start": 719,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343276.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "ENST00000899523.1",
"protein_id": "ENSP00000569582.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899523.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "ENST00000899524.1",
"protein_id": "ENSP00000569583.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899524.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "ENST00000899525.1",
"protein_id": "ENSP00000569584.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899525.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "ENST00000929736.1",
"protein_id": "ENSP00000599795.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929736.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met",
"transcript": "NM_024708.4",
"protein_id": "NP_078984.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 274,
"cds_start": 719,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024708.4"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"hgvs_c": "c.211+17517C>T",
"hgvs_p": null,
"transcript": "ENST00000558747.5",
"protein_id": "ENSP00000453626.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558747.5"
}
],
"gene_symbol": "ASB7",
"gene_hgnc_id": 17182,
"dbsnp": "rs371239685",
"frequency_reference_population": 0.000042131924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000437792,
"gnomad_genomes_af": 0.0000262988,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18809115886688232,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.77,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_198243.3",
"gene_symbol": "ASB7",
"hgnc_id": 17182,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}