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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: 3-41249500-GG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=41249500&ref=GG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ULK4",
"hgnc_id": 15784,
"hgvs_c": "c.3752_3753delCCinsTA",
"hgvs_p": "p.Ala1251Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_017886.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "CTNNB1",
"hgnc_id": 2514,
"hgvs_c": "n.*13-8832_*13-8831delGGinsTA",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000471014.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "A",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 3889,
"cds_end": null,
"cds_length": 3828,
"cds_start": 3752,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017886.4",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.3752_3753delCCinsTA",
"hgvs_p": "p.Ala1251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301831.9",
"protein_coding": true,
"protein_id": "NP_060356.2",
"strand": false,
"transcript": "NM_017886.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "A",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 3889,
"cds_end": null,
"cds_length": 3828,
"cds_start": 3752,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000301831.9",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.3752_3753delCCinsTA",
"hgvs_p": "p.Ala1251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017886.4",
"protein_coding": true,
"protein_id": "ENSP00000301831.4",
"strand": false,
"transcript": "ENST00000301831.9",
"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": 1028,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000489118.1",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "n.622_623delCCinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000489118.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "A",
"aa_start": 1250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 3871,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3749,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951851.1",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.3749_3750delCCinsTA",
"hgvs_p": "p.Ala1250Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621910.1",
"strand": false,
"transcript": "ENST00000951851.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "A",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 3787,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3668,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889811.1",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.3668_3669delCCinsTA",
"hgvs_p": "p.Ala1223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559870.1",
"strand": false,
"transcript": "ENST00000889811.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 973,
"aa_ref": "A",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 3813,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2846,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322501.2",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.2846_2847delCCinsTA",
"hgvs_p": "p.Ala949Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309430.1",
"strand": false,
"transcript": "NM_001322501.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "A",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448417.1",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.1925_1926delCCinsTA",
"hgvs_p": "p.Ala642Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304373.1",
"strand": false,
"transcript": "XM_047448417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 652,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024453612.2",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "c.1883_1884delCCinsTA",
"hgvs_p": "p.Ala628Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309380.1",
"strand": false,
"transcript": "XM_024453612.2",
"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": 4129,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NR_136342.2",
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"hgvs_c": "n.3723_3724delCCinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_136342.2",
"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": 836,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471014.2",
"gene_hgnc_id": 2514,
"gene_symbol": "CTNNB1",
"hgvs_c": "n.*13-8832_*13-8831delGGinsTA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495552.1",
"strand": true,
"transcript": "ENST00000471014.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15784,
"gene_symbol": "ULK4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.381,
"pos": 41249500,
"ref": "GG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_017886.4"
}
]
}