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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-49251692-AA-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49251692&ref=AA&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49251692,
"ref": "AA",
"alt": "GC",
"effect": "missense_variant",
"transcript": "ENST00000376207.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1117_1118delTTinsGC",
"hgvs_p": "p.Phe373Ala",
"transcript": "NM_014009.4",
"protein_id": "NP_054728.2",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 431,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": "ENST00000376207.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1117_1118delTTinsGC",
"hgvs_p": "p.Phe373Ala",
"transcript": "ENST00000376207.10",
"protein_id": "ENSP00000365380.4",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 431,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": "NM_014009.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1036_1037delTTinsGC",
"hgvs_p": "p.Phe346Ala",
"transcript": "ENST00000518685.6",
"protein_id": "ENSP00000428952.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 404,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1012_1013delTTinsGC",
"hgvs_p": "p.Phe338Ala",
"transcript": "ENST00000557224.6",
"protein_id": "ENSP00000451208.1",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 456,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1186_1187delTTinsGC",
"hgvs_p": "p.Phe396Ala",
"transcript": "ENST00000455775.7",
"protein_id": "ENSP00000396415.3",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 454,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1012_1013delTTinsGC",
"hgvs_p": "p.Phe338Ala",
"transcript": "NM_001114377.2",
"protein_id": "NP_001107849.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 396,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "c.1012_1013delTTinsGC",
"hgvs_p": "p.Phe338Ala",
"transcript": "ENST00000376199.7",
"protein_id": "ENSP00000365372.2",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 396,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "n.967_968delTTinsGC",
"hgvs_p": null,
"transcript": "ENST00000376197.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "n.*32_*33delTTinsGC",
"hgvs_p": null,
"transcript": "ENST00000651307.1",
"protein_id": "ENSP00000498454.1",
"transcript_support_level": null,
"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": 1297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"hgvs_c": "n.*32_*33delTTinsGC",
"hgvs_p": null,
"transcript": "ENST00000651307.1",
"protein_id": "ENSP00000498454.1",
"transcript_support_level": null,
"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": 1297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXP3",
"gene_hgnc_id": 6106,
"dbsnp": "rs122467172",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.454,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000376207.10",
"gene_symbol": "FOXP3",
"hgnc_id": 6106,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1117_1118delTTinsGC",
"hgvs_p": "p.Phe373Ala"
}
],
"clinvar_disease": "Insulin-dependent diabetes mellitus secretory diarrhea syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Insulin-dependent diabetes mellitus secretory diarrhea syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}