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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: 1-24342712-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24342712&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 24342712,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000361548.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys",
"transcript": "NM_198173.3",
"protein_id": "NP_937816.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 602,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "ENST00000361548.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys",
"transcript": "ENST00000361548.9",
"protein_id": "ENSP00000354943.5",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 602,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "NM_198173.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414Cys",
"transcript": "ENST00000236255.4",
"protein_id": "ENSP00000236255.4",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 607,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000356046.6",
"protein_id": "ENSP00000348333.2",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 556,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"transcript": "ENST00000528064.6",
"protein_id": "ENSP00000435130.2",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 509,
"cds_start": 946,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys",
"transcript": "NM_198174.3",
"protein_id": "NP_937817.3",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 626,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys",
"transcript": "ENST00000350501.9",
"protein_id": "ENSP00000288955.5",
"transcript_support_level": 2,
"aa_start": 409,
"aa_end": null,
"aa_length": 626,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414Cys",
"transcript": "NM_021180.4",
"protein_id": "NP_067003.2",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 607,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "NM_001195010.2",
"protein_id": "NP_001181939.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 556,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000524724.6",
"protein_id": "ENSP00000431290.2",
"transcript_support_level": 4,
"aa_start": 363,
"aa_end": null,
"aa_length": 556,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000689444.1",
"protein_id": "ENSP00000509040.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 556,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys",
"transcript": "ENST00000461318.2",
"protein_id": "ENSP00000508789.1",
"transcript_support_level": 3,
"aa_start": 409,
"aa_end": null,
"aa_length": 516,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"transcript": "ENST00000690803.1",
"protein_id": "ENSP00000510783.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 509,
"cds_start": 946,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"transcript": "ENST00000692334.1",
"protein_id": "ENSP00000509790.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 509,
"cds_start": 946,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "XM_011541869.2",
"protein_id": "XP_011540171.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 556,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"transcript": "XM_011541870.3",
"protein_id": "XP_011540172.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 509,
"cds_start": 946,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRHL3",
"gene_hgnc_id": 25839,
"dbsnp": "rs770938921",
"frequency_reference_population": 0.000004788525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478853,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7514863610267639,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.9973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.041,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000361548.9",
"gene_symbol": "GRHL3",
"hgnc_id": 25839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys"
}
],
"clinvar_disease": "Van der Woude syndrome 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|Van der Woude syndrome 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}