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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: 14-104938153-GGA-CGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104938153&ref=GGA&alt=CGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "AHNAK2",
"hgnc_id": 20125,
"hgvs_c": "c.17296_17298delTCCinsCCG",
"hgvs_p": "p.Ser5766Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_138420.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 5795,
"aa_ref": "S",
"aa_start": 5766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18335,
"cdna_start": 17435,
"cds_end": null,
"cds_length": 17388,
"cds_start": 17296,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138420.4",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "c.17296_17298delTCCinsCCG",
"hgvs_p": "p.Ser5766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333244.6",
"protein_coding": true,
"protein_id": "NP_612429.2",
"strand": false,
"transcript": "NM_138420.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 5795,
"aa_ref": "S",
"aa_start": 5766,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 18335,
"cdna_start": 17435,
"cds_end": null,
"cds_length": 17388,
"cds_start": 17296,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333244.6",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "c.17296_17298delTCCinsCCG",
"hgvs_p": "p.Ser5766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138420.4",
"protein_coding": true,
"protein_id": "ENSP00000353114.4",
"strand": false,
"transcript": "ENST00000333244.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2290,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557457.1",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "c.2290_2292delTCCinsCCG",
"hgvs_p": "p.Ser764Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450998.1",
"strand": false,
"transcript": "ENST00000557457.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 5695,
"aa_ref": "S",
"aa_start": 5666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18195,
"cdna_start": 17295,
"cds_end": null,
"cds_length": 17088,
"cds_start": 16996,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350929.2",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "c.16996_16998delTCCinsCCG",
"hgvs_p": "p.Ser5666Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337858.1",
"strand": false,
"transcript": "NM_001350929.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 5695,
"aa_ref": "S",
"aa_start": 5666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18336,
"cdna_start": 17436,
"cds_end": null,
"cds_length": 17088,
"cds_start": 16996,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449463.2",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "c.16996_16998delTCCinsCCG",
"hgvs_p": "p.Ser5666Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305231.1",
"strand": false,
"transcript": "XM_024449463.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 5695,
"aa_ref": "S",
"aa_start": 5666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21690,
"cdna_start": 20790,
"cds_end": null,
"cds_length": 17088,
"cds_start": 16996,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430904.1",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "c.16996_16998delTCCinsCCG",
"hgvs_p": "p.Ser5666Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286860.1",
"strand": false,
"transcript": "XM_047430904.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 18335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555122.1",
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"hgvs_c": "n.17424_17426delTCCinsCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000555122.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20125,
"gene_symbol": "AHNAK2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.478,
"pos": 104938153,
"ref": "GGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_138420.4"
}
]
}