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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: 1-24338044-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24338044&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 24338044,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000361548.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_198173.3",
"protein_id": "NP_937816.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 602,
"cds_start": 893,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "ENST00000361548.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000361548.9",
"protein_id": "ENSP00000354943.5",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 602,
"cds_start": 893,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "NM_198173.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.908G>A",
"hgvs_p": "p.Arg303His",
"transcript": "ENST00000236255.4",
"protein_id": "ENSP00000236255.4",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 607,
"cds_start": 908,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000356046.6",
"protein_id": "ENSP00000348333.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 556,
"cds_start": 755,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000528064.6",
"protein_id": "ENSP00000435130.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 509,
"cds_start": 614,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_198174.3",
"protein_id": "NP_937817.3",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 626,
"cds_start": 893,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000350501.9",
"protein_id": "ENSP00000288955.5",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 626,
"cds_start": 893,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.908G>A",
"hgvs_p": "p.Arg303His",
"transcript": "NM_021180.4",
"protein_id": "NP_067003.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 607,
"cds_start": 908,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "NM_001195010.2",
"protein_id": "NP_001181939.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 556,
"cds_start": 755,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000524724.6",
"protein_id": "ENSP00000431290.2",
"transcript_support_level": 4,
"aa_start": 252,
"aa_end": null,
"aa_length": 556,
"cds_start": 755,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000689444.1",
"protein_id": "ENSP00000509040.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 556,
"cds_start": 755,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000461318.2",
"protein_id": "ENSP00000508789.1",
"transcript_support_level": 3,
"aa_start": 298,
"aa_end": null,
"aa_length": 516,
"cds_start": 893,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000690803.1",
"protein_id": "ENSP00000510783.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 509,
"cds_start": 614,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000692334.1",
"protein_id": "ENSP00000509790.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 509,
"cds_start": 614,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "XM_011541869.2",
"protein_id": "XP_011540171.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 556,
"cds_start": 755,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "XM_011541870.3",
"protein_id": "XP_011540172.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 509,
"cds_start": 614,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 901,
"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.345G>A",
"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": "rs752673677",
"frequency_reference_population": 0.000018598077,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.000019851,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6473562121391296,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.734,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.35,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000361548.9",
"gene_symbol": "GRHL3",
"hgnc_id": 25839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His"
}
],
"clinvar_disease": "Van der Woude syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Van der Woude syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}