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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: 4-99307860-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99307860&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99307860,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000668.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1108C>G",
"hgvs_p": "p.Arg370Gly",
"transcript": "NM_000668.6",
"protein_id": "NP_000659.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 375,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": "ENST00000305046.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000668.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1108C>G",
"hgvs_p": "p.Arg370Gly",
"transcript": "ENST00000305046.13",
"protein_id": "ENSP00000306606.8",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 375,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": "NM_000668.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305046.13"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "ENST00000625860.2",
"protein_id": "ENSP00000486614.1",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 335,
"cds_start": 988,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625860.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1141C>G",
"hgvs_p": "p.Arg381Gly",
"transcript": "ENST00000881106.1",
"protein_id": "ENSP00000551165.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 386,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881106.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1105C>G",
"hgvs_p": "p.Arg369Gly",
"transcript": "ENST00000881097.1",
"protein_id": "ENSP00000551156.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 374,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881097.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1099C>G",
"hgvs_p": "p.Arg367Gly",
"transcript": "ENST00000881104.1",
"protein_id": "ENSP00000551163.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 372,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881104.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1081C>G",
"hgvs_p": "p.Arg361Gly",
"transcript": "ENST00000881100.1",
"protein_id": "ENSP00000551159.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 366,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881100.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Arg341Gly",
"transcript": "ENST00000881107.1",
"protein_id": "ENSP00000551166.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 346,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881107.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.1015C>G",
"hgvs_p": "p.Arg339Gly",
"transcript": "ENST00000881101.1",
"protein_id": "ENSP00000551160.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 344,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881101.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "ENST00000881098.1",
"protein_id": "ENSP00000551157.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 338,
"cds_start": 997,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881098.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "NM_001286650.2",
"protein_id": "NP_001273579.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 335,
"cds_start": 988,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286650.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "ENST00000506651.5",
"protein_id": "ENSP00000425998.2",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 335,
"cds_start": 988,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506651.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Arg283Gly",
"transcript": "ENST00000881099.1",
"protein_id": "ENSP00000551158.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 288,
"cds_start": 847,
"cds_end": null,
"cds_length": 867,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881099.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.661C>G",
"hgvs_p": "p.Arg221Gly",
"transcript": "ENST00000881105.1",
"protein_id": "ENSP00000551164.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 226,
"cds_start": 661,
"cds_end": null,
"cds_length": 681,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881105.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Arg187Gly",
"transcript": "ENST00000881103.1",
"protein_id": "ENSP00000551162.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 192,
"cds_start": 559,
"cds_end": null,
"cds_length": 579,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881103.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Arg100Gly",
"transcript": "ENST00000881102.1",
"protein_id": "ENSP00000551161.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 105,
"cds_start": 298,
"cds_end": null,
"cds_length": 318,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "n.3203C>G",
"hgvs_p": null,
"transcript": "ENST00000515694.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515694.4"
}
],
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"dbsnp": "rs2066702",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9235916137695312,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.9516,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.368,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000668.6",
"gene_symbol": "ADH1B",
"hgnc_id": 250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1108C>G",
"hgvs_p": "p.Arg370Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}