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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: 6-78940496-TTATA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=78940496&ref=TTATA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BA1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "PHIP",
"hgnc_id": 15673,
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_017934.7",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "IRAK1BP1",
"hgnc_id": 17368,
"hgvs_c": "n.*68-4896_*68-4893delATAT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000606868.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_score": -10,
"allele_count_reference_population": 59580,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1821,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11926,
"cdna_start": null,
"cds_end": null,
"cds_length": 5466,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_017934.7",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275034.5",
"protein_coding": true,
"protein_id": "NP_060404.4",
"strand": false,
"transcript": "NM_017934.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1821,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11926,
"cdna_start": null,
"cds_end": null,
"cds_length": 5466,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000275034.5",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017934.7",
"protein_coding": true,
"protein_id": "ENSP00000275034.3",
"strand": false,
"transcript": "ENST00000275034.5",
"transcript_support_level": 1
},
{
"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": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000606868.5",
"gene_hgnc_id": 17368,
"gene_symbol": "IRAK1BP1",
"hgvs_c": "n.*68-4896_*68-4893delATAT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475570.1",
"strand": true,
"transcript": "ENST00000606868.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1820,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7696,
"cdna_start": null,
"cds_end": null,
"cds_length": 5463,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000913657.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583716.1",
"strand": false,
"transcript": "ENST00000913657.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10242,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000700114.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514808.1",
"strand": false,
"transcript": "ENST00000700114.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1820,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11923,
"cdna_start": null,
"cds_end": null,
"cds_length": 5463,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_005248729.6",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248786.1",
"strand": false,
"transcript": "XM_005248729.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16905,
"cdna_start": null,
"cds_end": null,
"cds_length": 4950,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 37,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_011535918.4",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534220.1",
"strand": false,
"transcript": "XM_011535918.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": 453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418194.1",
"gene_hgnc_id": 17368,
"gene_symbol": "IRAK1BP1",
"hgvs_c": "c.*37+4943_*37+4946delATAT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274150.1",
"strand": true,
"transcript": "XM_047418194.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479165.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.*46_*49delTATA",
"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": "ENST00000479165.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1834,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": null,
"cds_end": null,
"cds_length": 5505,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700118.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514810.1",
"strand": true,
"transcript": "ENST00000700118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1827,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": null,
"cds_end": null,
"cds_length": 5484,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700013.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514754.1",
"strand": true,
"transcript": "ENST00000700013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1820,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": null,
"cds_end": null,
"cds_length": 5463,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700115.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514809.1",
"strand": true,
"transcript": "ENST00000700115.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": null,
"cds_end": null,
"cds_length": 5313,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965196.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635255.1",
"strand": true,
"transcript": "ENST00000965196.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5643,
"cdna_start": null,
"cds_end": null,
"cds_length": 5310,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913659.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583718.1",
"strand": true,
"transcript": "ENST00000913659.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": null,
"cds_end": null,
"cds_length": 5292,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913660.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583719.1",
"strand": true,
"transcript": "ENST00000913660.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": null,
"cds_end": null,
"cds_length": 5277,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913658.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.*193_*196delTATA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583717.1",
"strand": true,
"transcript": "ENST00000913658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700116.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.*96_*99delTATA",
"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": "ENST00000700116.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700170.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.*104_*107delTATA",
"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": "ENST00000700170.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs55984056",
"effect": "3_prime_UTR_variant",
"frequency_reference_population": 0.4577162,
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"gnomad_exomes_ac": 346,
"gnomad_exomes_af": 0.502907,
"gnomad_exomes_homalt": 57,
"gnomad_genomes_ac": 59234,
"gnomad_genomes_af": 0.457476,
"gnomad_genomes_homalt": 14044,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 14101,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.562,
"pos": 78940496,
"ref": "TTATA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017934.7"
}
]
}