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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-106033633-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=106033633&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PVS1_Strong",
"BS2_Supporting"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "SERPINA7",
"hgnc_id": 11583,
"hgvs_c": "c.1114delC",
"hgvs_p": "p.Leu372fs",
"inheritance_mode": "XL",
"pathogenic_score": 4,
"score": 3,
"transcript": "NM_000354.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong,BS2_Supporting",
"acmg_score": 3,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "association",
"clinvar_disease": "Thyroxine-binding globulin quantitative trait locus",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 415,
"aa_ref": "L",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1114,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000354.6",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1114delC",
"hgvs_p": "p.Leu372fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372563.2",
"protein_coding": true,
"protein_id": "NP_000345.2",
"strand": false,
"transcript": "NM_000354.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 415,
"aa_ref": "L",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1114,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000372563.2",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1114delC",
"hgvs_p": "p.Leu372fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000354.6",
"protein_coding": true,
"protein_id": "ENSP00000361644.1",
"strand": false,
"transcript": "ENST00000372563.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 415,
"aa_ref": "L",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1114,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000327674.8",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1114delC",
"hgvs_p": "p.Leu372fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329374.4",
"strand": false,
"transcript": "ENST00000327674.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": "L",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1144,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907820.1",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1144delC",
"hgvs_p": "p.Leu382fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577879.1",
"strand": false,
"transcript": "ENST00000907820.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 415,
"aa_ref": "L",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1114,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907821.1",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1114delC",
"hgvs_p": "p.Leu372fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577880.1",
"strand": false,
"transcript": "ENST00000907821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1078,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000907822.1",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1078delC",
"hgvs_p": "p.Leu360fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577881.1",
"strand": false,
"transcript": "ENST00000907822.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": "L",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1395,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1144,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006724683.3",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.1144delC",
"hgvs_p": "p.Leu382fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724746.1",
"strand": false,
"transcript": "XM_006724683.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005262180.5",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "c.*59delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262237.1",
"strand": false,
"transcript": "XM_005262180.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000487487.1",
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"hgvs_c": "n.*53delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000487487.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587776719",
"effect": "frameshift_variant",
"frequency_reference_population": 0.000022768298,
"gene_hgnc_id": 11583,
"gene_symbol": "SERPINA7",
"gnomad_exomes_ac": 25,
"gnomad_exomes_af": 0.0000227683,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 7,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "association",
"phenotype_combined": "Thyroxine-binding globulin quantitative trait locus",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.39,
"pos": 106033633,
"ref": "AG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000354.6"
}
]
}