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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: 2-135754247-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135754247&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135754247,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_014607.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "NM_014607.4",
"protein_id": "NP_055422.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 508,
"cds_start": 303,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": "ENST00000272638.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014607.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "ENST00000272638.14",
"protein_id": "ENSP00000272638.9",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 508,
"cds_start": 303,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": "NM_014607.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272638.14"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "ENST00000928826.1",
"protein_id": "ENSP00000598885.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 537,
"cds_start": 390,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928826.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000928825.1",
"protein_id": "ENSP00000598884.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 518,
"cds_start": 333,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928825.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.318A>G",
"hgvs_p": "p.Glu106Glu",
"transcript": "ENST00000882677.1",
"protein_id": "ENSP00000552736.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 513,
"cds_start": 318,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882677.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "ENST00000928823.1",
"protein_id": "ENSP00000598882.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 507,
"cds_start": 303,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928823.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.294A>G",
"hgvs_p": "p.Glu98Glu",
"transcript": "ENST00000928824.1",
"protein_id": "ENSP00000598883.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 505,
"cds_start": 294,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928824.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "ENST00000944517.1",
"protein_id": "ENSP00000614576.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 504,
"cds_start": 303,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944517.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.264A>G",
"hgvs_p": "p.Glu88Glu",
"transcript": "ENST00000944516.1",
"protein_id": "ENSP00000614575.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 495,
"cds_start": 264,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944516.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "ENST00000944518.1",
"protein_id": "ENSP00000614577.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 453,
"cds_start": 303,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944518.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "ENST00000928827.1",
"protein_id": "ENSP00000598886.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 431,
"cds_start": 303,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928827.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu",
"transcript": "ENST00000882676.1",
"protein_id": "ENSP00000552735.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 392,
"cds_start": 303,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882676.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.186-1287A>G",
"hgvs_p": null,
"transcript": "ENST00000928828.1",
"protein_id": "ENSP00000598887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928828.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.185+5878A>G",
"hgvs_p": null,
"transcript": "ENST00000944515.1",
"protein_id": "ENSP00000614574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944515.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.185+5878A>G",
"hgvs_p": null,
"transcript": "ENST00000882678.1",
"protein_id": "ENSP00000552737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882678.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "n.*606A>G",
"hgvs_p": null,
"transcript": "ENST00000416538.5",
"protein_id": "ENSP00000391586.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416538.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "n.377A>G",
"hgvs_p": null,
"transcript": "ENST00000470687.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "n.96A>G",
"hgvs_p": null,
"transcript": "ENST00000490163.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "n.*606A>G",
"hgvs_p": null,
"transcript": "ENST00000416538.5",
"protein_id": "ENSP00000391586.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416538.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "n.186-1270A>G",
"hgvs_p": null,
"transcript": "ENST00000426921.5",
"protein_id": "ENSP00000410516.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426921.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"hgvs_c": "c.*59A>G",
"hgvs_p": null,
"transcript": "ENST00000415164.5",
"protein_id": "ENSP00000401748.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415164.5"
}
],
"gene_symbol": "UBXN4",
"gene_hgnc_id": 14860,
"dbsnp": "rs1050115",
"frequency_reference_population": 0.14927092,
"hom_count_reference_population": 22459,
"allele_count_reference_population": 240734,
"gnomad_exomes_af": 0.147006,
"gnomad_genomes_af": 0.171015,
"gnomad_exomes_ac": 214712,
"gnomad_genomes_ac": 26022,
"gnomad_exomes_homalt": 19911,
"gnomad_genomes_homalt": 2548,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.859,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014607.4",
"gene_symbol": "UBXN4",
"hgnc_id": 14860,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Glu101Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}