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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: 14-53950399-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53950399&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53950399,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000245451.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "NM_001202.6",
"protein_id": "NP_001193.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": "ENST00000245451.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000245451.9",
"protein_id": "ENSP00000245451.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": "NM_001202.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000558984.1",
"protein_id": "ENSP00000454134.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000559087.5",
"protein_id": "ENSP00000453485.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Arg334His",
"transcript": "NM_001347912.1",
"protein_id": "NP_001334841.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 455,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "NM_001347914.2",
"protein_id": "NP_001334843.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "NM_001347916.1",
"protein_id": "NP_001334845.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "NM_130850.5",
"protein_id": "NP_570911.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "NM_130851.4",
"protein_id": "NP_570912.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His",
"transcript": "ENST00000417573.5",
"protein_id": "ENSP00000394165.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 408,
"cds_start": 860,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "NM_001347913.2",
"protein_id": "NP_001334842.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 345,
"cds_start": 671,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "NM_001347915.2",
"protein_id": "NP_001334844.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 345,
"cds_start": 671,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "NM_001347917.1",
"protein_id": "NP_001334846.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 345,
"cds_start": 671,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "ENST00000559501.1",
"protein_id": "ENSP00000453365.1",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 270,
"cds_start": 671,
"cds_end": null,
"cds_length": 815,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.*403G>A",
"hgvs_p": null,
"transcript": "ENST00000558961.1",
"protein_id": "ENSP00000453691.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"dbsnp": "rs121912768",
"frequency_reference_population": 0.00050010596,
"hom_count_reference_population": 2,
"allele_count_reference_population": 807,
"gnomad_exomes_af": 0.000409911,
"gnomad_genomes_af": 0.00136513,
"gnomad_exomes_ac": 599,
"gnomad_genomes_ac": 208,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02092650532722473,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.444,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1369,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.8,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000245451.9",
"gene_symbol": "BMP4",
"hgnc_id": 1071,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287His"
}
],
"clinvar_disease": "BMP4-related disorder,Microphthalmia with brain and digit anomalies,Orofacial cleft 11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Microphthalmia with brain and digit anomalies|Orofacial cleft 11;Microphthalmia with brain and digit anomalies|Orofacial cleft 11|BMP4-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}