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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: 19-38905520-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38905520&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NFKBIB",
"hgnc_id": 7798,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002503.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": 0.0778,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "19",
"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": 0.13374808430671692,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1071,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002503.5",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313582.6",
"protein_coding": true,
"protein_id": "NP_002494.2",
"strand": true,
"transcript": "NM_002503.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1071,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000313582.6",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002503.5",
"protein_coding": true,
"protein_id": "ENSP00000312988.5",
"strand": true,
"transcript": "ENST00000313582.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 338,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1017,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000572515.5",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459728.1",
"strand": true,
"transcript": "ENST00000572515.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 338,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1017,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369699.1",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Ala202Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356628.1",
"strand": true,
"transcript": "NM_001369699.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 499,
"cds_end": null,
"cds_length": 813,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001243116.2",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230045.1",
"strand": true,
"transcript": "NM_001243116.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": 465,
"cds_end": null,
"cds_length": 813,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392079.7",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375929.4",
"strand": true,
"transcript": "ENST00000392079.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 265,
"aa_ref": "A",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 873,
"cdna_start": 346,
"cds_end": null,
"cds_length": 798,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918171.1",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Ala111Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588230.1",
"strand": true,
"transcript": "ENST00000918171.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 264,
"aa_ref": "A",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": 392,
"cds_end": null,
"cds_length": 795,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369700.1",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Ala110Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356629.1",
"strand": true,
"transcript": "NM_001369700.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 264,
"aa_ref": "A",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": 353,
"cds_end": null,
"cds_length": 795,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948624.1",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Ala110Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618683.1",
"strand": true,
"transcript": "ENST00000948624.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 232,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": 465,
"cds_end": null,
"cds_length": 701,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000576510.5",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461617.1",
"strand": true,
"transcript": "ENST00000576510.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 148,
"aa_ref": "A",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": 471,
"cds_end": null,
"cds_length": 448,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575359.5",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458685.1",
"strand": true,
"transcript": "ENST00000575359.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 324,
"aa_ref": "A",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1136,
"cdna_start": 612,
"cds_end": null,
"cds_length": 975,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006723226.3",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Ala170Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723289.2",
"strand": true,
"transcript": "XM_006723226.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 967,
"cdna_start": 443,
"cds_end": null,
"cds_length": 813,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006723227.4",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723290.4",
"strand": true,
"transcript": "XM_006723227.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000509705.3",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "n.*350G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000438598.2",
"strand": true,
"transcript": "ENST00000509705.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_040515.2",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "n.612G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_040515.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_161470.1",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "n.499G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_161470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000509705.3",
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"hgvs_c": "n.*350G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000438598.2",
"strand": true,
"transcript": "ENST00000509705.3",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs750093332",
"effect": "missense_variant",
"frequency_reference_population": 0.000021966134,
"gene_hgnc_id": 7798,
"gene_symbol": "NFKBIB",
"gnomad_exomes_ac": 32,
"gnomad_exomes_af": 0.0000219661,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 1.939,
"pos": 38905520,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.03,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_002503.5"
}
]
}