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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: 7-150996468-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150996468&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150996468,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000297494.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "NM_000603.5",
"protein_id": "NP_000594.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1203,
"cds_start": 335,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000297494.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "ENST00000297494.8",
"protein_id": "ENSP00000297494.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 1203,
"cds_start": 335,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_000603.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "ENST00000484524.5",
"protein_id": "ENSP00000420215.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 629,
"cds_start": 335,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "ENST00000467517.1",
"protein_id": "ENSP00000420551.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 614,
"cds_start": 335,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "NM_001160111.1",
"protein_id": "NP_001153583.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 629,
"cds_start": 335,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "NM_001160110.1",
"protein_id": "NP_001153582.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 614,
"cds_start": 335,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"transcript": "NM_001160109.2",
"protein_id": "NP_001153581.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 596,
"cds_start": 335,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"hgvs_c": "c.-37+1154G>A",
"hgvs_p": null,
"transcript": "ENST00000461406.5",
"protein_id": "ENSP00000417143.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 997,
"cds_start": -4,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOS3",
"gene_hgnc_id": 7876,
"dbsnp": "rs3918166",
"frequency_reference_population": 0.002930567,
"hom_count_reference_population": 87,
"allele_count_reference_population": 4660,
"gnomad_exomes_af": 0.001772,
"gnomad_genomes_af": 0.0143896,
"gnomad_exomes_ac": 2559,
"gnomad_genomes_ac": 2101,
"gnomad_exomes_homalt": 42,
"gnomad_genomes_homalt": 45,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0025461912155151367,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.275,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000297494.8",
"gene_symbol": "NOS3",
"hgnc_id": 7876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln"
}
],
"clinvar_disease": "NOS3-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|NOS3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}