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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: 16-71129790-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=71129790&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 71129790,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000393567.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1077T>A",
"hgvs_p": "p.Asp359Glu",
"transcript": "NM_001270974.2",
"protein_id": "NP_001257903.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 5121,
"cds_start": 1077,
"cds_end": null,
"cds_length": 15366,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 21046,
"mane_select": "ENST00000393567.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1077T>A",
"hgvs_p": "p.Asp359Glu",
"transcript": "ENST00000393567.7",
"protein_id": "ENSP00000377197.2",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 5121,
"cds_start": 1077,
"cds_end": null,
"cds_length": 15366,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 21046,
"mane_select": "NM_001270974.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1128T>A",
"hgvs_p": "p.Asp376Glu",
"transcript": "ENST00000288168.14",
"protein_id": "ENSP00000288168.10",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 725,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2953,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "n.*325T>A",
"hgvs_p": null,
"transcript": "ENST00000539447.5",
"protein_id": "ENSP00000463093.1",
"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": 2792,
"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": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "n.441T>A",
"hgvs_p": null,
"transcript": "ENST00000545230.5",
"protein_id": "ENSP00000463422.1",
"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": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "n.*325T>A",
"hgvs_p": null,
"transcript": "ENST00000539447.5",
"protein_id": "ENSP00000463093.1",
"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": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1077T>A",
"hgvs_p": "p.Asp359Glu",
"transcript": "NM_017558.5",
"protein_id": "NP_060028.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1077,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1077T>A",
"hgvs_p": "p.Asp359Glu",
"transcript": "ENST00000321489.9",
"protein_id": "ENSP00000314736.5",
"transcript_support_level": 2,
"aa_start": 359,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1077,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1158T>A",
"hgvs_p": "p.Asp386Glu",
"transcript": "NM_001198542.1",
"protein_id": "NP_001185471.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 950,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1158T>A",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000538248.5",
"protein_id": "ENSP00000444970.1",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 950,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1128T>A",
"hgvs_p": "p.Asp376Glu",
"transcript": "NM_001198543.1",
"protein_id": "NP_001185472.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 940,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "c.1128T>A",
"hgvs_p": "p.Asp376Glu",
"transcript": "ENST00000541601.5",
"protein_id": "ENSP00000437341.1",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 940,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"hgvs_c": "n.-70T>A",
"hgvs_p": null,
"transcript": "ENST00000393552.6",
"protein_id": "ENSP00000463767.1",
"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": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HYDIN",
"gene_hgnc_id": 19368,
"dbsnp": "rs4788770",
"frequency_reference_population": 0.000001390515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000139052,
"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": 0.020637482404708862,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.703,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393567.7",
"gene_symbol": "HYDIN",
"hgnc_id": 19368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1077T>A",
"hgvs_p": "p.Asp359Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}