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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: 19-44819487-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44819487&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44819487,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005581.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "NM_005581.5",
"protein_id": "NP_005572.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 628,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270233.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005581.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "ENST00000270233.12",
"protein_id": "ENSP00000270233.5",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 628,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005581.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270233.12"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Thr536Ala",
"transcript": "ENST00000940906.1",
"protein_id": "ENSP00000610965.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 625,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940906.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Thr523Ala",
"transcript": "ENST00000852016.1",
"protein_id": "ENSP00000522075.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 612,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852016.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1534A>G",
"hgvs_p": "p.Thr512Ala",
"transcript": "ENST00000852014.1",
"protein_id": "ENSP00000522073.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 601,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852014.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1531A>G",
"hgvs_p": "p.Thr511Ala",
"transcript": "ENST00000852017.1",
"protein_id": "ENSP00000522076.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 600,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852017.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "NM_001013257.2",
"protein_id": "NP_001013275.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 588,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013257.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "ENST00000611077.5",
"protein_id": "ENSP00000481153.1",
"transcript_support_level": 5,
"aa_start": 539,
"aa_end": null,
"aa_length": 588,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611077.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Thr439Ala",
"transcript": "ENST00000852015.1",
"protein_id": "ENSP00000522074.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 528,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852015.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "n.241A>G",
"hgvs_p": null,
"transcript": "ENST00000588714.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"hgvs_c": "n.*243A>G",
"hgvs_p": null,
"transcript": "ENST00000589558.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589558.1"
}
],
"gene_symbol": "BCAM",
"gene_hgnc_id": 6722,
"dbsnp": "rs1135062",
"frequency_reference_population": 0.2888676,
"hom_count_reference_population": 69947,
"allele_count_reference_population": 466126,
"gnomad_exomes_af": 0.285516,
"gnomad_genomes_af": 0.321092,
"gnomad_exomes_ac": 417311,
"gnomad_genomes_ac": 48815,
"gnomad_exomes_homalt": 61764,
"gnomad_genomes_homalt": 8183,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0006849169731140137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.903,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005581.5",
"gene_symbol": "BCAM",
"hgnc_id": 6722,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala"
}
],
"clinvar_disease": "AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b),BCAM-related disorder,BLOOD GROUP--LUTHERAN SYSTEM,LuLu phenotype,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)|LuLu phenotype;BLOOD GROUP--LUTHERAN SYSTEM|BCAM-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}