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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: 1-6452092-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6452092&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6452092,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000645284.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln",
"transcript": "NM_031475.3",
"protein_id": "NP_113663.2",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 854,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "ENST00000645284.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln",
"transcript": "ENST00000645284.1",
"protein_id": "ENSP00000496593.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 854,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "NM_031475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000461727.6",
"protein_id": "ENSP00000465308.1",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 288,
"cds_start": 623,
"cds_end": null,
"cds_length": 867,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln",
"transcript": "ENST00000636330.1",
"protein_id": "ENSP00000490186.1",
"transcript_support_level": 5,
"aa_start": 774,
"aa_end": null,
"aa_length": 1362,
"cds_start": 2321,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753Gln",
"transcript": "NM_001367474.1",
"protein_id": "NP_001354403.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 833,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2231G>A",
"hgvs_p": "p.Arg744Gln",
"transcript": "NM_001367473.1",
"protein_id": "NP_001354402.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 824,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "ENST00000633239.1",
"protein_id": "ENSP00000488071.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 237,
"cds_start": 470,
"cds_end": null,
"cds_length": 714,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125Gln",
"transcript": "ENST00000477679.2",
"protein_id": "ENSP00000495669.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 205,
"cds_start": 374,
"cds_end": null,
"cds_length": 618,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Arg117Gln",
"transcript": "ENST00000434576.2",
"protein_id": "ENSP00000413621.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 187,
"cds_start": 350,
"cds_end": null,
"cds_length": 564,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130Gln",
"transcript": "ENST00000475228.6",
"protein_id": "ENSP00000488721.2",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 178,
"cds_start": 389,
"cds_end": null,
"cds_length": 539,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "ENST00000636644.1",
"protein_id": "ENSP00000490230.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 530,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753Gln",
"transcript": "XM_011542231.1",
"protein_id": "XP_011540533.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2258,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2231G>A",
"hgvs_p": "p.Arg744Gln",
"transcript": "XM_011542232.1",
"protein_id": "XP_011540534.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1332,
"cds_start": 2231,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547Gln",
"transcript": "XM_011542233.3",
"protein_id": "XP_011540535.2",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1640,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247Gln",
"transcript": "XM_047431542.1",
"protein_id": "XP_047287498.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 835,
"cds_start": 740,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753Gln",
"transcript": "XM_017002433.2",
"protein_id": "XP_016857922.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 823,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047431549.1",
"protein_id": "XP_047287505.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 805,
"cds_start": 650,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047431551.1",
"protein_id": "XP_047287507.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 805,
"cds_start": 650,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149Gln",
"transcript": "XM_011542236.3",
"protein_id": "XP_011540538.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 737,
"cds_start": 446,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000475479.2",
"protein_id": "ENSP00000496370.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"dbsnp": "rs121908136",
"frequency_reference_population": 0.000011017312,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.000010785,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36809247732162476,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.462,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.584,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645284.1",
"gene_symbol": "ESPN",
"hgnc_id": 13281,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln"
}
],
"clinvar_disease": " autosomal dominant, without vestibular involvement,Deafness",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Deafness, without vestibular involvement, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}