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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: 10-102400748-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102400748&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102400748,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001322934.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "NM_001322934.2",
"protein_id": "NP_001309863.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 900,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": "ENST00000661543.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "ENST00000661543.1",
"protein_id": "ENSP00000499294.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 900,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": "NM_001322934.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "ENST00000369966.8",
"protein_id": "ENSP00000358983.3",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 900,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "ENST00000189444.11",
"protein_id": "ENSP00000189444.6",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 899,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "ENST00000428099.6",
"protein_id": "ENSP00000410256.1",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 899,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "NM_001077494.3",
"protein_id": "NP_001070962.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 900,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "NM_001261403.3",
"protein_id": "NP_001248332.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 899,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "NM_001288724.1",
"protein_id": "NP_001275653.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 899,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "NM_002502.6",
"protein_id": "NP_002493.3",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 899,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu",
"transcript": "ENST00000652277.1",
"protein_id": "ENSP00000498308.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 899,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Arg589Leu",
"transcript": "NM_001322935.1",
"protein_id": "NP_001309864.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 858,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.171G>T",
"hgvs_p": null,
"transcript": "ENST00000473400.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.842G>T",
"hgvs_p": null,
"transcript": "ENST00000697883.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.158G>T",
"hgvs_p": null,
"transcript": "ENST00000697884.1",
"protein_id": null,
"transcript_support_level": null,
"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": 837,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.33-1357G>T",
"hgvs_p": null,
"transcript": "ENST00000651907.1",
"protein_id": null,
"transcript_support_level": null,
"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": 356,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.307+257G>T",
"hgvs_p": null,
"transcript": "ENST00000697920.1",
"protein_id": null,
"transcript_support_level": null,
"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": 396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"dbsnp": "rs757608785",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.305014967918396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.2701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.216,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001322934.2",
"gene_symbol": "NFKB2",
"hgnc_id": 7795,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1892G>T",
"hgvs_p": "p.Arg631Leu"
}
],
"clinvar_disease": " 10, common variable,Immunodeficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Immunodeficiency, common variable, 10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}