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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: 10-102401464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102401464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102401464,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000661543.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "NM_001322934.2",
"protein_id": "NP_001309863.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 900,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": "ENST00000661543.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "ENST00000661543.1",
"protein_id": "ENSP00000499294.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 900,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": "NM_001322934.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "ENST00000369966.8",
"protein_id": "ENSP00000358983.3",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 900,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "ENST00000189444.11",
"protein_id": "ENSP00000189444.6",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 899,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "ENST00000428099.6",
"protein_id": "ENSP00000410256.1",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 899,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "NM_001077494.3",
"protein_id": "NP_001070962.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 900,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "NM_001261403.3",
"protein_id": "NP_001248332.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 899,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "NM_001288724.1",
"protein_id": "NP_001275653.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 899,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "NM_002502.6",
"protein_id": "NP_002493.3",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 899,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu",
"transcript": "ENST00000652277.1",
"protein_id": "ENSP00000498308.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 899,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2506,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Leu705Leu",
"transcript": "NM_001322935.1",
"protein_id": "NP_001309864.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 858,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2676,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.1189C>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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.505C>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.33-641C>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.308-872C>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
},
{
"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": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "n.*195C>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
}
],
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"dbsnp": "rs11191279",
"frequency_reference_population": 0.014986115,
"hom_count_reference_population": 251,
"allele_count_reference_population": 24186,
"gnomad_exomes_af": 0.01552,
"gnomad_genomes_af": 0.00985982,
"gnomad_exomes_ac": 22685,
"gnomad_genomes_ac": 1501,
"gnomad_exomes_homalt": 238,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.896,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000661543.1",
"gene_symbol": "NFKB2",
"hgnc_id": 7795,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Leu747Leu"
}
],
"clinvar_disease": " 10, common variable,Immunodeficiency,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Immunodeficiency, common variable, 10|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}