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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: 19-45032733-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45032733&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45032733,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000221452.13",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.1191C>A",
"hgvs_p": "p.Tyr397*",
"transcript": "NM_006509.4",
"protein_id": "NP_006500.2",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 579,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": "ENST00000221452.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.1191C>A",
"hgvs_p": "p.Tyr397*",
"transcript": "ENST00000221452.13",
"protein_id": "ENSP00000221452.7",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 579,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": "NM_006509.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.1182C>A",
"hgvs_p": "p.Tyr394*",
"transcript": "NM_001411087.1",
"protein_id": "NP_001398016.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 576,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.1182C>A",
"hgvs_p": "p.Tyr394*",
"transcript": "ENST00000505236.2",
"protein_id": "ENSP00000423287.1",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 576,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.24C>A",
"hgvs_p": "p.Tyr8*",
"transcript": "ENST00000589972.1",
"protein_id": "ENSP00000468460.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 141,
"cds_start": 24,
"cds_end": null,
"cds_length": 426,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.780C>A",
"hgvs_p": "p.Tyr260*",
"transcript": "XM_047439189.1",
"protein_id": "XP_047295145.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 442,
"cds_start": 780,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.573C>A",
"hgvs_p": "p.Tyr191*",
"transcript": "XM_047439190.1",
"protein_id": "XP_047295146.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 373,
"cds_start": 573,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1759,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "n.310C>A",
"hgvs_p": null,
"transcript": "ENST00000509229.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 775,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "n.*523C>A",
"hgvs_p": null,
"transcript": "ENST00000700471.1",
"protein_id": "ENSP00000515004.1",
"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": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "n.*523C>A",
"hgvs_p": null,
"transcript": "ENST00000700471.1",
"protein_id": "ENSP00000515004.1",
"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": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"hgvs_c": "c.992-1511C>A",
"hgvs_p": null,
"transcript": "XM_005259128.3",
"protein_id": "XP_005259185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RELB",
"gene_hgnc_id": 9956,
"dbsnp": "rs745463649",
"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": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.57,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.35,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000221452.13",
"gene_symbol": "RELB",
"hgnc_id": 9956,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1191C>A",
"hgvs_p": "p.Tyr397*"
}
],
"clinvar_disease": "Immunodeficiency 53",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency 53",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}