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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: 4-99314010-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99314010&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99314010,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000668.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn",
"transcript": "NM_000668.6",
"protein_id": "NP_000659.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 375,
"cds_start": 639,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305046.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000668.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn",
"transcript": "ENST00000305046.13",
"protein_id": "ENSP00000306606.8",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 375,
"cds_start": 639,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000668.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305046.13"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.519A>C",
"hgvs_p": "p.Lys173Asn",
"transcript": "ENST00000625860.2",
"protein_id": "ENSP00000486614.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625860.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn",
"transcript": "ENST00000881106.1",
"protein_id": "ENSP00000551165.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 386,
"cds_start": 639,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881106.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn",
"transcript": "ENST00000881097.1",
"protein_id": "ENSP00000551156.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 374,
"cds_start": 639,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881097.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.630A>C",
"hgvs_p": "p.Lys210Asn",
"transcript": "ENST00000881104.1",
"protein_id": "ENSP00000551163.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 372,
"cds_start": 630,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881104.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn",
"transcript": "ENST00000881100.1",
"protein_id": "ENSP00000551159.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 366,
"cds_start": 639,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881100.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.552A>C",
"hgvs_p": "p.Lys184Asn",
"transcript": "ENST00000881107.1",
"protein_id": "ENSP00000551166.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 346,
"cds_start": 552,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881107.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.546A>C",
"hgvs_p": "p.Lys182Asn",
"transcript": "ENST00000881101.1",
"protein_id": "ENSP00000551160.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 344,
"cds_start": 546,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881101.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn",
"transcript": "ENST00000881098.1",
"protein_id": "ENSP00000551157.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 338,
"cds_start": 639,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881098.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.519A>C",
"hgvs_p": "p.Lys173Asn",
"transcript": "NM_001286650.2",
"protein_id": "NP_001273579.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286650.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.519A>C",
"hgvs_p": "p.Lys173Asn",
"transcript": "ENST00000506651.5",
"protein_id": "ENSP00000425998.2",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506651.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Lys64Asn",
"transcript": "ENST00000881105.1",
"protein_id": "ENSP00000551164.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 226,
"cds_start": 192,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881105.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.90A>C",
"hgvs_p": "p.Lys30Asn",
"transcript": "ENST00000881103.1",
"protein_id": "ENSP00000551162.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 192,
"cds_start": 90,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.567+1888A>C",
"hgvs_p": null,
"transcript": "ENST00000881099.1",
"protein_id": "ENSP00000551158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881099.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.19-2354A>C",
"hgvs_p": null,
"transcript": "ENST00000881102.1",
"protein_id": "ENSP00000551161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "n.2734A>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515694.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "n.4858A>C",
"hgvs_p": null,
"transcript": "ENST00000632775.1",
"protein_id": null,
"transcript_support_level": 6,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000632775.1"
}
],
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"dbsnp": "rs755890908",
"frequency_reference_population": 0.000001368092,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4896577298641205,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.6412,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.017,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000668.6",
"gene_symbol": "ADH1B",
"hgnc_id": 250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Lys213Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}