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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: 12-50108041-GAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50108041&ref=GAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50108041,
"ref": "GAA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_005276.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.866_867delAA",
"hgvs_p": "p.Lys289fs",
"transcript": "NM_005276.4",
"protein_id": "NP_005267.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 349,
"cds_start": 866,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301149.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005276.4"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.866_867delAA",
"hgvs_p": "p.Lys289fs",
"transcript": "ENST00000301149.8",
"protein_id": "ENSP00000301149.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 349,
"cds_start": 866,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005276.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301149.8"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.968_969delAA",
"hgvs_p": "p.Lys323fs",
"transcript": "ENST00000942603.1",
"protein_id": "ENSP00000612662.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 383,
"cds_start": 968,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942603.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.944_945delAA",
"hgvs_p": "p.Lys315fs",
"transcript": "ENST00000872078.1",
"protein_id": "ENSP00000542137.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 375,
"cds_start": 944,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872078.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.899_900delAA",
"hgvs_p": "p.Lys300fs",
"transcript": "ENST00000872076.1",
"protein_id": "ENSP00000542135.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 360,
"cds_start": 899,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872076.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.896_897delAA",
"hgvs_p": "p.Lys299fs",
"transcript": "ENST00000872073.1",
"protein_id": "ENSP00000542132.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 359,
"cds_start": 896,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872073.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.881_882delAA",
"hgvs_p": "p.Lys294fs",
"transcript": "ENST00000872077.1",
"protein_id": "ENSP00000542136.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 354,
"cds_start": 881,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872077.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.863_864delAA",
"hgvs_p": "p.Lys288fs",
"transcript": "ENST00000942601.1",
"protein_id": "ENSP00000612660.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 348,
"cds_start": 863,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942601.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.854_855delAA",
"hgvs_p": "p.Lys285fs",
"transcript": "ENST00000872074.1",
"protein_id": "ENSP00000542133.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 345,
"cds_start": 854,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872074.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.851_852delAA",
"hgvs_p": "p.Lys284fs",
"transcript": "ENST00000942604.1",
"protein_id": "ENSP00000612663.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 344,
"cds_start": 851,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942604.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.797_798delAA",
"hgvs_p": "p.Lys266fs",
"transcript": "NM_001257199.2",
"protein_id": "NP_001244128.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 326,
"cds_start": 797,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257199.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.797_798delAA",
"hgvs_p": "p.Lys266fs",
"transcript": "ENST00000548814.1",
"protein_id": "ENSP00000446768.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 326,
"cds_start": 797,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548814.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.725_726delAA",
"hgvs_p": "p.Lys242fs",
"transcript": "ENST00000872075.1",
"protein_id": "ENSP00000542134.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 302,
"cds_start": 725,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872075.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "c.629_630delAA",
"hgvs_p": "p.Lys210fs",
"transcript": "ENST00000942602.1",
"protein_id": "ENSP00000612661.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 270,
"cds_start": 629,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"hgvs_c": "n.675_676delAA",
"hgvs_p": null,
"transcript": "ENST00000547190.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000547190.5"
},
{
"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": "ENSG00000295262",
"gene_hgnc_id": null,
"hgvs_c": "n.914+3662_914+3663delTT",
"hgvs_p": null,
"transcript": "ENST00000728910.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000728910.1"
}
],
"gene_symbol": "GPD1",
"gene_hgnc_id": 4455,
"dbsnp": "rs746781699",
"frequency_reference_population": 0.0000068545264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000685453,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 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": 4.316,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_005276.4",
"gene_symbol": "GPD1",
"hgnc_id": 4455,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.866_867delAA",
"hgvs_p": "p.Lys289fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000728910.1",
"gene_symbol": "ENSG00000295262",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.914+3662_914+3663delTT",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}