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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: 10-27743286-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27743286&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27743286,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000419761.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "NM_173576.3",
"protein_id": "NP_775847.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": "ENST00000419761.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "ENST00000419761.6",
"protein_id": "ENSP00000400896.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": "NM_173576.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "ENST00000375790.9",
"protein_id": "ENSP00000364946.4",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "NM_001242702.2",
"protein_id": "NP_001229631.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "ENST00000460919.2",
"protein_id": "ENSP00000452751.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 289,
"cds_start": 130,
"cds_end": null,
"cds_length": 872,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "ENST00000561227.1",
"protein_id": "ENSP00000453746.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 57,
"cds_start": 130,
"cds_end": null,
"cds_length": 174,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_017016105.2",
"protein_id": "XP_016871594.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_017016106.2",
"protein_id": "XP_016871595.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_047425117.1",
"protein_id": "XP_047281073.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 352,
"cds_start": 130,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_017016107.2",
"protein_id": "XP_016871596.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 295,
"cds_start": 130,
"cds_end": null,
"cds_length": 888,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_047425118.1",
"protein_id": "XP_047281074.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 295,
"cds_start": 130,
"cds_end": null,
"cds_length": 888,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_017016108.2",
"protein_id": "XP_016871597.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 291,
"cds_start": 130,
"cds_end": null,
"cds_length": 876,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys",
"transcript": "XM_047425119.1",
"protein_id": "XP_047281075.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 291,
"cds_start": 130,
"cds_end": null,
"cds_length": 876,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MKX",
"gene_hgnc_id": 23729,
"dbsnp": "rs752500845",
"frequency_reference_population": 0.0000014288898,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142889,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2734600603580475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0885,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.028,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419761.6",
"gene_symbol": "MKX",
"hgnc_id": 23729,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Gly44Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}