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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: 14-22771096-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22771096&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22771096,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005015.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1018A>T",
"hgvs_p": "p.Thr340Ser",
"transcript": "NM_005015.5",
"protein_id": "NP_005006.4",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 435,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612549.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005015.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1018A>T",
"hgvs_p": "p.Thr340Ser",
"transcript": "ENST00000612549.6",
"protein_id": "ENSP00000483491.2",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 435,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005015.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612549.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1198A>T",
"hgvs_p": "p.Thr400Ser",
"transcript": "ENST00000285848.9",
"protein_id": "ENSP00000285848.5",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 495,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285848.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1012A>T",
"hgvs_p": "p.Thr338Ser",
"transcript": "ENST00000937832.1",
"protein_id": "ENSP00000607891.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 433,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937832.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1012A>T",
"hgvs_p": "p.Thr338Ser",
"transcript": "ENST00000937833.1",
"protein_id": "ENSP00000607892.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 433,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937833.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.979A>T",
"hgvs_p": "p.Thr327Ser",
"transcript": "ENST00000887761.1",
"protein_id": "ENSP00000557820.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 422,
"cds_start": 979,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887761.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Thr324Ser",
"transcript": "ENST00000358043.5",
"protein_id": "ENSP00000350740.5",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 419,
"cds_start": 970,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358043.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.940A>T",
"hgvs_p": "p.Thr314Ser",
"transcript": "ENST00000887762.1",
"protein_id": "ENSP00000557821.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 409,
"cds_start": 940,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887762.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1018A>T",
"hgvs_p": "p.Thr340Ser",
"transcript": "ENST00000412791.5",
"protein_id": "ENSP00000387601.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 408,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412791.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.925A>T",
"hgvs_p": "p.Thr309Ser",
"transcript": "ENST00000937834.1",
"protein_id": "ENSP00000607893.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 404,
"cds_start": 925,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937834.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Thr292Ser",
"transcript": "ENST00000887759.1",
"protein_id": "ENSP00000557818.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 387,
"cds_start": 874,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887759.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.856A>T",
"hgvs_p": "p.Thr286Ser",
"transcript": "ENST00000887760.1",
"protein_id": "ENSP00000557819.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 381,
"cds_start": 856,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887760.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.712A>T",
"hgvs_p": "p.Thr238Ser",
"transcript": "ENST00000887763.1",
"protein_id": "ENSP00000557822.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 333,
"cds_start": 712,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "n.1103A>T",
"hgvs_p": null,
"transcript": "ENST00000481218.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "n.1193A>T",
"hgvs_p": null,
"transcript": "ENST00000495424.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495424.5"
}
],
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"dbsnp": "rs193921091",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2212507426738739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.503,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005015.5",
"gene_symbol": "OXA1L",
"hgnc_id": 8526,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1018A>T",
"hgvs_p": "p.Thr340Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}