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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: X-9725758-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=9725758&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 9725758,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000273.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.1203T>C",
"hgvs_p": "p.His401His",
"transcript": "NM_000273.3",
"protein_id": "NP_000264.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 404,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000467482.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000273.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.1203T>C",
"hgvs_p": "p.His401His",
"transcript": "ENST00000467482.6",
"protein_id": "ENSP00000417161.1",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 404,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000273.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467482.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.1287T>C",
"hgvs_p": "p.His429His",
"transcript": "ENST00000929114.1",
"protein_id": "ENSP00000599173.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 432,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929114.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.1185T>C",
"hgvs_p": "p.His395His",
"transcript": "ENST00000929113.1",
"protein_id": "ENSP00000599172.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 398,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929113.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.1110T>C",
"hgvs_p": "p.His370His",
"transcript": "ENST00000929112.1",
"protein_id": "ENSP00000599171.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 373,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929112.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.891T>C",
"hgvs_p": "p.His297His",
"transcript": "ENST00000911141.1",
"protein_id": "ENSP00000581200.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 300,
"cds_start": 891,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911141.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.951T>C",
"hgvs_p": "p.His317His",
"transcript": "XM_024452388.2",
"protein_id": "XP_024308156.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 320,
"cds_start": 951,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452388.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"hgvs_c": "c.*178T>C",
"hgvs_p": null,
"transcript": "NM_001440781.1",
"protein_id": "NP_001427710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440781.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.1554+10755A>G",
"hgvs_p": null,
"transcript": "ENST00000647060.1",
"protein_id": "ENSP00000495467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647060.1"
}
],
"gene_symbol": "GPR143",
"gene_hgnc_id": 20145,
"dbsnp": "rs780522481",
"frequency_reference_population": 9.197559e-7,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.19756e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.294,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000273.3",
"gene_symbol": "GPR143",
"hgnc_id": 20145,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1203T>C",
"hgvs_p": "p.His401His"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647060.1",
"gene_symbol": "TBL1X",
"hgnc_id": 11585,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.1554+10755A>G",
"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
}