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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: 16-72059118-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72059118&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72059118,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000355906.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Val124Val",
"transcript": "NM_005143.5",
"protein_id": "NP_005134.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 406,
"cds_start": 372,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": "ENST00000355906.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Val124Val",
"transcript": "ENST00000355906.10",
"protein_id": "ENSP00000348170.5",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 406,
"cds_start": 372,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": "NM_005143.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "ENST00000398131.6",
"protein_id": "ENSP00000381199.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 347,
"cds_start": 195,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "ENST00000570083.5",
"protein_id": "ENSP00000457629.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 347,
"cds_start": 195,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1270,
"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.266-994G>A",
"hgvs_p": null,
"transcript": "ENST00000565574.5",
"protein_id": "ENSP00000454966.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1187,
"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.285-14761C>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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.480G>A",
"hgvs_p": "p.Val160Val",
"transcript": "ENST00000357763.8",
"protein_id": "ENSP00000350406.5",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 442,
"cds_start": 480,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Val121Val",
"transcript": "ENST00000567185.7",
"protein_id": "ENSP00000464070.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 403,
"cds_start": 363,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.366G>A",
"hgvs_p": "p.Val122Val",
"transcript": "ENST00000567612.2",
"protein_id": "ENSP00000463491.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 364,
"cds_start": 366,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "NM_001126102.3",
"protein_id": "NP_001119574.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 347,
"cds_start": 195,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "ENST00000564499.5",
"protein_id": "ENSP00000456503.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 668,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.366G>A",
"hgvs_p": "p.Val122Val",
"transcript": "ENST00000576168.6",
"protein_id": "ENSP00000461999.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 148,
"cds_start": 366,
"cds_end": null,
"cds_length": 447,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "ENST00000562526.5",
"protein_id": "ENSP00000454413.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 92,
"cds_start": 195,
"cds_end": null,
"cds_length": 279,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "ENST00000569639.5",
"protein_id": "ENSP00000463755.1",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 91,
"cds_start": 195,
"cds_end": null,
"cds_length": 276,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Val65Val",
"transcript": "ENST00000568417.6",
"protein_id": "ENSP00000462662.1",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 87,
"cds_start": 195,
"cds_end": null,
"cds_length": 265,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 280,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "n.2011G>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.266-994G>A",
"hgvs_p": null,
"transcript": "NM_001318138.2",
"protein_id": "NP_001305067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"dbsnp": "rs5473",
"frequency_reference_population": 0.004625062,
"hom_count_reference_population": 689,
"allele_count_reference_population": 7238,
"gnomad_exomes_af": 0.00444618,
"gnomad_genomes_af": 0.0064154,
"gnomad_exomes_ac": 6326,
"gnomad_genomes_ac": 912,
"gnomad_exomes_homalt": 591,
"gnomad_genomes_homalt": 98,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.191,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355906.10",
"gene_symbol": "HP",
"hgnc_id": 5141,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Val124Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000562153.6",
"gene_symbol": "ENSG00000310525",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285-14761C>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
}