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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: 17-75823323-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75823323&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75823323,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000589666.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.2078G>T",
"hgvs_p": "p.Gly693Val",
"transcript": "NM_001080419.3",
"protein_id": "NP_001073888.2",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 810,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": "ENST00000589666.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.2078G>T",
"hgvs_p": "p.Gly693Val",
"transcript": "ENST00000589666.6",
"protein_id": "ENSP00000464893.1",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 810,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": "NM_001080419.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000587258.1",
"protein_id": "ENSP00000467726.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 218,
"cds_start": 392,
"cds_end": null,
"cds_length": 659,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Gly722Val",
"transcript": "XM_017025248.2",
"protein_id": "XP_016880737.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 839,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 7162,
"cdna_end": null,
"cdna_length": 8899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Gly722Val",
"transcript": "XM_047436962.1",
"protein_id": "XP_047292918.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 839,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 8050,
"cdna_end": null,
"cdna_length": 9787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.2129G>T",
"hgvs_p": "p.Gly710Val",
"transcript": "XM_047436963.1",
"protein_id": "XP_047292919.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 827,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 7007,
"cdna_end": null,
"cdna_length": 8744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.2042G>T",
"hgvs_p": "p.Gly681Val",
"transcript": "XM_047436964.1",
"protein_id": "XP_047292920.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 798,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1976G>T",
"hgvs_p": "p.Gly659Val",
"transcript": "XM_017025249.2",
"protein_id": "XP_016880738.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 776,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 3254,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1976G>T",
"hgvs_p": "p.Gly659Val",
"transcript": "XM_047436965.1",
"protein_id": "XP_047292921.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 776,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 4796,
"cdna_end": null,
"cdna_length": 6533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1574G>T",
"hgvs_p": "p.Gly525Val",
"transcript": "XM_006722148.3",
"protein_id": "XP_006722211.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 642,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1574G>T",
"hgvs_p": "p.Gly525Val",
"transcript": "XM_011525400.2",
"protein_id": "XP_011523702.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 642,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1574G>T",
"hgvs_p": "p.Gly525Val",
"transcript": "XM_047436966.1",
"protein_id": "XP_047292922.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 642,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"hgvs_c": "c.1208G>T",
"hgvs_p": "p.Gly403Val",
"transcript": "XM_011525401.3",
"protein_id": "XP_011523703.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 520,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNK",
"gene_hgnc_id": 29369,
"dbsnp": "rs2062086520",
"frequency_reference_population": 6.8556164e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85562e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08516910672187805,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0751,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.189,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589666.6",
"gene_symbol": "UNK",
"hgnc_id": 29369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2078G>T",
"hgvs_p": "p.Gly693Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}