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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: 14-77406038-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77406038&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOXRED1",
"hgnc_id": 20487,
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Gln260His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001113475.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 28,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1225,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22787538170814514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1080,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001113475.3",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380835.7",
"protein_coding": true,
"protein_id": "NP_001106946.1",
"strand": false,
"transcript": "NM_001113475.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1080,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000380835.7",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001113475.3",
"protein_coding": true,
"protein_id": "ENSP00000370215.2",
"strand": false,
"transcript": "ENST00000380835.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1080,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001394980.1",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381909.1",
"strand": false,
"transcript": "NM_001394980.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1080,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005267330.5",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267387.1",
"strand": false,
"transcript": "XM_005267330.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1080,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011536428.4",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534730.1",
"strand": false,
"transcript": "XM_011536428.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 269,
"aa_ref": "Q",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 860,
"cds_end": null,
"cds_length": 810,
"cds_start": 510,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011536429.4",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.510G>T",
"hgvs_p": "p.Gln170His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534731.1",
"strand": false,
"transcript": "XM_011536429.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": null,
"cds_end": null,
"cds_length": 705,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020969.3",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "c.530+1427G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876458.1",
"strand": false,
"transcript": "XM_017020969.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000555901.1",
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"hgvs_c": "n.1535G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000555901.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs542739899",
"effect": "missense_variant",
"frequency_reference_population": 0.000017350461,
"gene_hgnc_id": 20487,
"gene_symbol": "NOXRED1",
"gnomad_exomes_ac": 21,
"gnomad_exomes_af": 0.0000143688,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459655,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.17,
"pos": 77406038,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.129,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001113475.3"
}
]
}