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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: 19-35888588-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35888588&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35888588,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032721.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "NM_139239.5",
"protein_id": "NP_640332.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 455,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000641389.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139239.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Cys",
"transcript": "ENST00000641389.3",
"protein_id": "ENSP00000493265.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 455,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139239.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641389.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "ENST00000606253.5",
"protein_id": "ENSP00000475712.2",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606253.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "n.*420C>T",
"hgvs_p": null,
"transcript": "ENST00000590828.5",
"protein_id": "ENSP00000467127.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590828.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "n.*420C>T",
"hgvs_p": null,
"transcript": "ENST00000590828.5",
"protein_id": "ENSP00000467127.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590828.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Cys",
"transcript": "ENST00000585925.8",
"protein_id": "ENSP00000465684.4",
"transcript_support_level": 3,
"aa_start": 462,
"aa_end": null,
"aa_length": 470,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585925.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "NM_032721.3",
"protein_id": "NP_116110.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032721.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Cys",
"transcript": "NM_001321831.2",
"protein_id": "NP_001308760.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 328,
"cds_start": 958,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321831.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Cys",
"transcript": "ENST00000715565.1",
"protein_id": "ENSP00000520477.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 328,
"cds_start": 958,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715565.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "NM_001365705.1",
"protein_id": "NP_001352634.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 313,
"cds_start": 913,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365705.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000585544.2",
"protein_id": "ENSP00000520478.1",
"transcript_support_level": 4,
"aa_start": 305,
"aa_end": null,
"aa_length": 313,
"cds_start": 913,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585544.2"
}
],
"gene_symbol": "NFKBID",
"gene_hgnc_id": 15671,
"dbsnp": "rs754675713",
"frequency_reference_population": 0.000015260826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.00001408,
"gnomad_genomes_af": 0.0000262812,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.185450941324234,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.4152,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.104,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032721.3",
"gene_symbol": "NFKBID",
"hgnc_id": 15671,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}