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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: 1-24338064-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24338064&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 24338064,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "ENST00000361548.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.916dupC",
"hgvs_p": "p.Arg306fs",
"transcript": "NM_198173.3",
"protein_id": "NP_937816.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 602,
"cds_start": 917,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "ENST00000361548.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.916dupC",
"hgvs_p": "p.Arg306fs",
"transcript": "ENST00000361548.9",
"protein_id": "ENSP00000354943.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 602,
"cds_start": 917,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "NM_198173.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.931dupC",
"hgvs_p": "p.Arg311fs",
"transcript": "ENST00000236255.4",
"protein_id": "ENSP00000236255.4",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 607,
"cds_start": 932,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.778dupC",
"hgvs_p": "p.Arg260fs",
"transcript": "ENST00000356046.6",
"protein_id": "ENSP00000348333.2",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 556,
"cds_start": 779,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.637dupC",
"hgvs_p": "p.Arg213fs",
"transcript": "ENST00000528064.6",
"protein_id": "ENSP00000435130.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 509,
"cds_start": 638,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.916dupC",
"hgvs_p": "p.Arg306fs",
"transcript": "NM_198174.3",
"protein_id": "NP_937817.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 626,
"cds_start": 917,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.916dupC",
"hgvs_p": "p.Arg306fs",
"transcript": "ENST00000350501.9",
"protein_id": "ENSP00000288955.5",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 626,
"cds_start": 917,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.931dupC",
"hgvs_p": "p.Arg311fs",
"transcript": "NM_021180.4",
"protein_id": "NP_067003.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 607,
"cds_start": 932,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.778dupC",
"hgvs_p": "p.Arg260fs",
"transcript": "NM_001195010.2",
"protein_id": "NP_001181939.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 556,
"cds_start": 779,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.778dupC",
"hgvs_p": "p.Arg260fs",
"transcript": "ENST00000524724.6",
"protein_id": "ENSP00000431290.2",
"transcript_support_level": 4,
"aa_start": 260,
"aa_end": null,
"aa_length": 556,
"cds_start": 779,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.778dupC",
"hgvs_p": "p.Arg260fs",
"transcript": "ENST00000689444.1",
"protein_id": "ENSP00000509040.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 556,
"cds_start": 779,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.916dupC",
"hgvs_p": "p.Arg306fs",
"transcript": "ENST00000461318.2",
"protein_id": "ENSP00000508789.1",
"transcript_support_level": 3,
"aa_start": 306,
"aa_end": null,
"aa_length": 516,
"cds_start": 917,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.637dupC",
"hgvs_p": "p.Arg213fs",
"transcript": "ENST00000690803.1",
"protein_id": "ENSP00000510783.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 509,
"cds_start": 638,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.637dupC",
"hgvs_p": "p.Arg213fs",
"transcript": "ENST00000692334.1",
"protein_id": "ENSP00000509790.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 509,
"cds_start": 638,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.778dupC",
"hgvs_p": "p.Arg260fs",
"transcript": "XM_011541869.2",
"protein_id": "XP_011540171.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 556,
"cds_start": 779,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.637dupC",
"hgvs_p": "p.Arg213fs",
"transcript": "XM_011541870.3",
"protein_id": "XP_011540172.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 509,
"cds_start": 638,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "n.368dupC",
"hgvs_p": null,
"transcript": "ENST00000528181.1",
"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": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"dbsnp": "rs886037769",
"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": 0.029999999329447746,
"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": 7.851,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "ENST00000361548.9",
"gene_symbol": "GRHL3",
"hgnc_id": 25839,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.916dupC",
"hgvs_p": "p.Arg306fs"
}
],
"clinvar_disease": "Isolated cleft palate",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Isolated cleft palate",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}