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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: 4-99318127-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99318127&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99318127,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000668.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "NM_000668.6",
"protein_id": "NP_000659.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 375,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000305046.13",
"protein_id": "ENSP00000306606.8",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 375,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.58A>T",
"hgvs_p": "p.Thr20Ser",
"transcript": "ENST00000625860.2",
"protein_id": "ENSP00000486614.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 335,
"cds_start": 58,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881106.1",
"protein_id": "ENSP00000551165.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 386,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881097.1",
"protein_id": "ENSP00000551156.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 374,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881104.1",
"protein_id": "ENSP00000551163.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 372,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881100.1",
"protein_id": "ENSP00000551159.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 366,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881107.1",
"protein_id": "ENSP00000551166.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 346,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881101.1",
"protein_id": "ENSP00000551160.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 344,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881098.1",
"protein_id": "ENSP00000551157.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 338,
"cds_start": 178,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.58A>T",
"hgvs_p": "p.Thr20Ser",
"transcript": "NM_001286650.2",
"protein_id": "NP_001273579.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 335,
"cds_start": 58,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.58A>T",
"hgvs_p": "p.Thr20Ser",
"transcript": "ENST00000506651.5",
"protein_id": "ENSP00000425998.2",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 335,
"cds_start": 58,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser",
"transcript": "ENST00000881099.1",
"protein_id": "ENSP00000551158.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 288,
"cds_start": 178,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.120+658A>T",
"hgvs_p": null,
"transcript": "ENST00000881105.1",
"protein_id": "ENSP00000551164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.18+3187A>T",
"hgvs_p": null,
"transcript": "ENST00000881103.1",
"protein_id": "ENSP00000551162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "c.18+3187A>T",
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "n.232A>T",
"hgvs_p": null,
"transcript": "ENST00000504498.1",
"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": "ENST00000504498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1B",
"gene_hgnc_id": 250,
"hgvs_c": "n.2273A>T",
"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.741A>T",
"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": "rs6413413",
"frequency_reference_population": 0.007412828,
"hom_count_reference_population": 87,
"allele_count_reference_population": 11963,
"gnomad_exomes_af": 0.00744405,
"gnomad_genomes_af": 0.0071125,
"gnomad_exomes_ac": 10882,
"gnomad_genomes_ac": 1081,
"gnomad_exomes_homalt": 79,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003427177667617798,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.1337,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.83,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000668.6",
"gene_symbol": "ADH1B",
"hgnc_id": 250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.178A>T",
"hgvs_p": "p.Thr60Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}