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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: 2-178461009-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178461009&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178461009,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000644580.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"transcript": "NM_001042702.5",
"protein_id": "NP_001036167.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 352,
"cds_start": 794,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": "ENST00000644580.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"transcript": "ENST00000644580.2",
"protein_id": "ENSP00000495855.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 352,
"cds_start": 794,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": "NM_001042702.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"transcript": "ENST00000375129.8",
"protein_id": "ENSP00000364271.4",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 352,
"cds_start": 794,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1202,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "n.1664G>A",
"hgvs_p": null,
"transcript": "ENST00000437056.5",
"protein_id": null,
"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": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Arg268His",
"transcript": "NM_001353775.2",
"protein_id": "NP_001340704.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 355,
"cds_start": 803,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267His",
"transcript": "NM_001353776.2",
"protein_id": "NP_001340705.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 354,
"cds_start": 800,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"transcript": "NM_001369912.1",
"protein_id": "NP_001356841.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 352,
"cds_start": 794,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000645572.1",
"protein_id": "ENSP00000494301.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 299,
"cds_start": 695,
"cds_end": null,
"cds_length": 901,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106His",
"transcript": "NM_001353777.1",
"protein_id": "NP_001340706.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 193,
"cds_start": 317,
"cds_end": null,
"cds_length": 582,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106His",
"transcript": "NM_001353778.2",
"protein_id": "NP_001340707.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 193,
"cds_start": 317,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106His",
"transcript": "ENST00000642192.1",
"protein_id": "ENSP00000494225.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 193,
"cds_start": 317,
"cds_end": null,
"cds_length": 582,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106His",
"transcript": "ENST00000642492.1",
"protein_id": "ENSP00000496267.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 193,
"cds_start": 317,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106His",
"transcript": "ENST00000645817.1",
"protein_id": "ENSP00000495731.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 193,
"cds_start": 317,
"cds_end": null,
"cds_length": 582,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106His",
"transcript": "ENST00000647226.1",
"protein_id": "ENSP00000496024.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 193,
"cds_start": 317,
"cds_end": null,
"cds_length": 582,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "XM_017004221.3",
"protein_id": "XP_016859710.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 387,
"cds_start": 899,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.*49G>A",
"hgvs_p": null,
"transcript": "ENST00000442710.5",
"protein_id": "ENSP00000410776.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.*24G>A",
"hgvs_p": null,
"transcript": "ENST00000642762.1",
"protein_id": "ENSP00000496028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"dbsnp": "rs199841343",
"frequency_reference_population": 0.00033153172,
"hom_count_reference_population": 1,
"allele_count_reference_population": 535,
"gnomad_exomes_af": 0.000347541,
"gnomad_genomes_af": 0.000177604,
"gnomad_exomes_ac": 508,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03406304121017456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.0785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.815,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644580.2",
"gene_symbol": "PJVK",
"hgnc_id": 29502,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 59,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "not provided|Autosomal recessive nonsyndromic hearing loss 59|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}