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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: 20-3668985-ATCTGGACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3668985&ref=ATCTGGACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3668985,
"ref": "ATCTGGACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000356518.7",
"consequences": [
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2412_2419delAGTCCAGA",
"hgvs_p": "p.Gln804fs",
"transcript": "NM_025220.5",
"protein_id": "NP_079496.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 813,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000356518.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2412_2419delAGTCCAGA",
"hgvs_p": "p.Gln804fs",
"transcript": "ENST00000356518.7",
"protein_id": "ENSP00000348912.3",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 813,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_025220.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2409_2416delAGTCCAGA",
"hgvs_p": "p.Gln803fs",
"transcript": "ENST00000379861.8",
"protein_id": "ENSP00000369190.4",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.1973_1980delAGTCCAGA",
"hgvs_p": null,
"transcript": "ENST00000466620.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2409_2416delAGTCCAGA",
"hgvs_p": "p.Gln803fs",
"transcript": "NM_001282447.3",
"protein_id": "NP_001269376.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2334_2341delAGTCCAGA",
"hgvs_p": "p.Gln778fs",
"transcript": "NM_153202.4",
"protein_id": "NP_694882.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 787,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2334_2341delAGTCCAGA",
"hgvs_p": "p.Gln778fs",
"transcript": "ENST00000350009.6",
"protein_id": "ENSP00000322550.5",
"transcript_support_level": 5,
"aa_start": 778,
"aa_end": null,
"aa_length": 787,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2451_2458delAGTCCAGA",
"hgvs_p": "p.Gln817fs",
"transcript": "XM_005260843.2",
"protein_id": "XP_005260900.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 826,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2448_2455delAGTCCAGA",
"hgvs_p": "p.Gln816fs",
"transcript": "XM_011529366.2",
"protein_id": "XP_011527668.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 825,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2448_2455delAGTCCAGA",
"hgvs_p": "p.Gln816fs",
"transcript": "XM_047440514.1",
"protein_id": "XP_047296470.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 825,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2442_2449delAGTCCAGA",
"hgvs_p": "p.Gln814fs",
"transcript": "XM_006723640.2",
"protein_id": "XP_006723703.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 823,
"cds_start": 2442,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2409_2416delAGTCCAGA",
"hgvs_p": "p.Gln803fs",
"transcript": "XM_011529367.2",
"protein_id": "XP_011527669.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2373_2380delAGTCCAGA",
"hgvs_p": "p.Gln791fs",
"transcript": "XM_047440515.1",
"protein_id": "XP_047296471.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 800,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2370_2377delAGTCCAGA",
"hgvs_p": "p.Gln790fs",
"transcript": "XM_047440516.1",
"protein_id": "XP_047296472.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 799,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.1335_1342delAGTCCAGA",
"hgvs_p": null,
"transcript": "ENST00000483362.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.2365_2372delAGTCCAGA",
"hgvs_p": null,
"transcript": "XR_937151.2",
"protein_id": null,
"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": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.2362_2369delAGTCCAGA",
"hgvs_p": null,
"transcript": "XR_937152.2",
"protein_id": null,
"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": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"dbsnp": "rs17548837",
"frequency_reference_population": 0.039280232,
"hom_count_reference_population": 1712,
"allele_count_reference_population": 63089,
"gnomad_exomes_af": 0.038221,
"gnomad_genomes_af": 0.0494013,
"gnomad_exomes_ac": 55572,
"gnomad_genomes_ac": 7517,
"gnomad_exomes_homalt": 1487,
"gnomad_genomes_homalt": 225,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.292,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000356518.7",
"gene_symbol": "ADAM33",
"hgnc_id": 15478,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2412_2419delAGTCCAGA",
"hgvs_p": "p.Gln804fs"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}