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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: 2-38882417-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38882417&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 38882417,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000644631.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Glu120Lys",
"transcript": "NM_001145450.3",
"protein_id": "NP_001138922.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 151,
"cds_start": 358,
"cds_end": null,
"cds_length": 456,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 727,
"mane_select": "ENST00000644631.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"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": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Glu120Lys",
"transcript": "ENST00000644631.4",
"protein_id": "ENSP00000494143.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 151,
"cds_start": 358,
"cds_end": null,
"cds_length": 456,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 727,
"mane_select": "NM_001145450.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000409665.5",
"protein_id": "ENSP00000386874.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 79,
"cds_start": 142,
"cds_end": null,
"cds_length": 240,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000410014.5",
"protein_id": "ENSP00000386563.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 79,
"cds_start": 142,
"cds_end": null,
"cds_length": 240,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Glu26Lys",
"transcript": "ENST00000409131.2",
"protein_id": "ENSP00000387181.2",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 57,
"cds_start": 76,
"cds_end": null,
"cds_length": 174,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Glu15Lys",
"transcript": "ENST00000409077.2",
"protein_id": "ENSP00000387161.2",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 46,
"cds_start": 43,
"cds_end": null,
"cds_length": 141,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MORN2",
"gene_hgnc_id": 30166,
"hgvs_c": "n.137+839G>A",
"hgvs_p": null,
"transcript": "ENST00000441049.5",
"protein_id": "ENSP00000401340.1",
"transcript_support_level": 5,
"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": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MORN2",
"gene_hgnc_id": 30166,
"dbsnp": "rs3099950",
"frequency_reference_population": 0.114230536,
"hom_count_reference_population": 11090,
"allele_count_reference_population": 175788,
"gnomad_exomes_af": 0.116883,
"gnomad_genomes_af": 0.0900466,
"gnomad_exomes_ac": 162093,
"gnomad_genomes_ac": 13695,
"gnomad_exomes_homalt": 10279,
"gnomad_genomes_homalt": 811,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020634829998016357,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.3586,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.19,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000644631.4",
"gene_symbol": "MORN2",
"hgnc_id": 30166,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Glu120Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}