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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: 11-30233644-AGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=30233644&ref=AGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 30233644,
"ref": "AGT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000533718.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs",
"transcript": "NM_001382289.1",
"protein_id": "NP_001369218.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 129,
"cds_start": 236,
"cds_end": null,
"cds_length": 390,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": "ENST00000533718.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs",
"transcript": "ENST00000533718.2",
"protein_id": "ENSP00000433424.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 129,
"cds_start": 236,
"cds_end": null,
"cds_length": 390,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": "NM_001382289.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs",
"transcript": "NM_000510.4",
"protein_id": "NP_000501.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 129,
"cds_start": 236,
"cds_end": null,
"cds_length": 390,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs",
"transcript": "NM_001018080.3",
"protein_id": "NP_001018090.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 129,
"cds_start": 236,
"cds_end": null,
"cds_length": 390,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs",
"transcript": "ENST00000254122.8",
"protein_id": "ENSP00000254122.3",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 129,
"cds_start": 236,
"cds_end": null,
"cds_length": 390,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs",
"transcript": "ENST00000417547.1",
"protein_id": "ENSP00000416606.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 129,
"cds_start": 236,
"cds_end": null,
"cds_length": 390,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.471-76793_471-76792delAC",
"hgvs_p": null,
"transcript": "ENST00000527819.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.293-76793_293-76792delAC",
"hgvs_p": null,
"transcript": "ENST00000662729.1",
"protein_id": null,
"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": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.517-76793_517-76792delAC",
"hgvs_p": null,
"transcript": "ENST00000726808.1",
"protein_id": null,
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.375-72598_375-72597delAC",
"hgvs_p": null,
"transcript": "ENST00000726809.1",
"protein_id": null,
"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": 431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.250+83244_250+83245delAC",
"hgvs_p": null,
"transcript": "NR_187431.1",
"protein_id": null,
"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": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.429+83244_429+83245delAC",
"hgvs_p": null,
"transcript": "NR_187432.1",
"protein_id": null,
"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": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.250+83244_250+83245delAC",
"hgvs_p": null,
"transcript": "NR_187433.1",
"protein_id": null,
"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": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.358+87924_358+87925delAC",
"hgvs_p": null,
"transcript": "NR_187434.1",
"protein_id": null,
"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": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.251-76793_251-76792delAC",
"hgvs_p": null,
"transcript": "NR_187435.1",
"protein_id": null,
"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": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.251-76793_251-76792delAC",
"hgvs_p": null,
"transcript": "NR_187436.1",
"protein_id": null,
"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": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARL14EP-DT",
"gene_hgnc_id": 55517,
"hgvs_c": "n.29+89272_29+89273delAC",
"hgvs_p": null,
"transcript": "NR_187437.1",
"protein_id": null,
"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": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FSHB",
"gene_hgnc_id": 3964,
"dbsnp": "rs5030646",
"frequency_reference_population": 0.00005576367,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000513086,
"gnomad_genomes_af": 0.0000985468,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.692,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000533718.2",
"gene_symbol": "FSHB",
"hgnc_id": 3964,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.236_237delTG",
"hgvs_p": "p.Val79fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000527819.2",
"gene_symbol": "ARL14EP-DT",
"hgnc_id": 55517,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.471-76793_471-76792delAC",
"hgvs_p": null
}
],
"clinvar_disease": "Hypogonadotropic hypogonadism 24 without anosmia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Hypogonadotropic hypogonadism 24 without anosmia|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}