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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: 16-72060409-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72060409&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72060409,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355906.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Ile247Asn",
"transcript": "NM_005143.5",
"protein_id": "NP_005134.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 406,
"cds_start": 740,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": "ENST00000355906.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Ile247Asn",
"transcript": "ENST00000355906.10",
"protein_id": "ENSP00000348170.5",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 406,
"cds_start": 740,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": "NM_005143.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.563T>A",
"hgvs_p": "p.Ile188Asn",
"transcript": "ENST00000398131.6",
"protein_id": "ENSP00000381199.2",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 563,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.563T>A",
"hgvs_p": "p.Ile188Asn",
"transcript": "ENST00000565574.5",
"protein_id": "ENSP00000454966.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 563,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.563T>A",
"hgvs_p": "p.Ile188Asn",
"transcript": "ENST00000570083.5",
"protein_id": "ENSP00000457629.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 563,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310525",
"gene_hgnc_id": null,
"hgvs_c": "n.285-16052A>T",
"hgvs_p": null,
"transcript": "ENST00000562153.6",
"protein_id": "ENSP00000454635.2",
"transcript_support_level": 4,
"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": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.848T>A",
"hgvs_p": "p.Ile283Asn",
"transcript": "ENST00000357763.8",
"protein_id": "ENSP00000350406.5",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 442,
"cds_start": 848,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.731T>A",
"hgvs_p": "p.Ile244Asn",
"transcript": "ENST00000567185.7",
"protein_id": "ENSP00000464070.1",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 403,
"cds_start": 731,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.614T>A",
"hgvs_p": "p.Ile205Asn",
"transcript": "ENST00000567612.2",
"protein_id": "ENSP00000463491.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 364,
"cds_start": 614,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.563T>A",
"hgvs_p": "p.Ile188Asn",
"transcript": "NM_001126102.3",
"protein_id": "NP_001119574.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 563,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.563T>A",
"hgvs_p": "p.Ile188Asn",
"transcript": "NM_001318138.2",
"protein_id": "NP_001305067.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 563,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.443T>A",
"hgvs_p": "p.Ile148Asn",
"transcript": "ENST00000564499.5",
"protein_id": "ENSP00000456503.1",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 221,
"cds_start": 443,
"cds_end": null,
"cds_length": 668,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "n.2379T>A",
"hgvs_p": null,
"transcript": "ENST00000566821.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.266-254T>A",
"hgvs_p": null,
"transcript": "ENST00000562526.5",
"protein_id": "ENSP00000454413.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"dbsnp": "rs104894517",
"frequency_reference_population": 6.8405444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-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": 0.9826124906539917,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.918,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9517,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.495,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355906.10",
"gene_symbol": "HP",
"hgnc_id": 5141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Ile247Asn"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000562153.6",
"gene_symbol": "ENSG00000310525",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285-16052A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}