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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: 20-3671118-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3671118&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3671118,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000356518.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Val710Ile",
"transcript": "NM_025220.5",
"protein_id": "NP_079496.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 813,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000356518.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Val710Ile",
"transcript": "ENST00000356518.7",
"protein_id": "ENSP00000348912.3",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 813,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_025220.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Val710Ile",
"transcript": "ENST00000379861.8",
"protein_id": "ENSP00000369190.4",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 812,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2370,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.1689G>A",
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Val710Ile",
"transcript": "NM_001282447.3",
"protein_id": "NP_001269376.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 812,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "NM_153202.4",
"protein_id": "NP_694882.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 787,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Val684Ile",
"transcript": "ENST00000350009.6",
"protein_id": "ENSP00000322550.5",
"transcript_support_level": 5,
"aa_start": 684,
"aa_end": null,
"aa_length": 787,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"transcript": "XM_005260843.2",
"protein_id": "XP_005260900.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 826,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2164G>A",
"hgvs_p": "p.Val722Ile",
"transcript": "XM_011529366.2",
"protein_id": "XP_011527668.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 825,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"transcript": "XM_047440514.1",
"protein_id": "XP_047296470.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 825,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Val720Ile",
"transcript": "XM_006723640.2",
"protein_id": "XP_006723703.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 823,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"transcript": "XM_011529367.2",
"protein_id": "XP_011527669.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 812,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Val697Ile",
"transcript": "XM_047440515.1",
"protein_id": "XP_047296471.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 800,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Val697Ile",
"transcript": "XM_047440516.1",
"protein_id": "XP_047296472.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 799,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2095,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.2173G>A",
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.2173G>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.*232G>A",
"hgvs_p": null,
"transcript": "XM_011529370.2",
"protein_id": "XP_011527672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": -4,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"dbsnp": "rs3918396",
"frequency_reference_population": 0.085948564,
"hom_count_reference_population": 6687,
"allele_count_reference_population": 138048,
"gnomad_exomes_af": 0.0879617,
"gnomad_genomes_af": 0.0667275,
"gnomad_exomes_ac": 127887,
"gnomad_genomes_ac": 10161,
"gnomad_exomes_homalt": 6238,
"gnomad_genomes_homalt": 449,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001609891653060913,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.085,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000356518.7",
"gene_symbol": "ADAM33",
"hgnc_id": 15478,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Val710Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}