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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: 18-3071880-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3071880&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYOM1",
"hgnc_id": 7613,
"hgvs_c": "c.4718G>C",
"hgvs_p": "p.Arg1573Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_003803.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9627,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hypertrophic cardiomyopathy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8779163360595703,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1685,
"aa_ref": "R",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5707,
"cdna_start": 4912,
"cds_end": null,
"cds_length": 5058,
"cds_start": 4718,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_003803.4",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4718G>C",
"hgvs_p": "p.Arg1573Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356443.9",
"protein_coding": true,
"protein_id": "NP_003794.3",
"strand": false,
"transcript": "NM_003803.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1685,
"aa_ref": "R",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5707,
"cdna_start": 4912,
"cds_end": null,
"cds_length": 5058,
"cds_start": 4718,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000356443.9",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4718G>C",
"hgvs_p": "p.Arg1573Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003803.4",
"protein_coding": true,
"protein_id": "ENSP00000348821.4",
"strand": false,
"transcript": "ENST00000356443.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "R",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": 4505,
"cds_end": null,
"cds_length": 4770,
"cds_start": 4430,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000261606.11",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4430G>C",
"hgvs_p": "p.Arg1477Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261606.7",
"strand": false,
"transcript": "ENST00000261606.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1673,
"aa_ref": "R",
"aa_start": 1561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5785,
"cdna_start": 4876,
"cds_end": null,
"cds_length": 5022,
"cds_start": 4682,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000941943.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4682G>C",
"hgvs_p": "p.Arg1561Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612002.1",
"strand": false,
"transcript": "ENST00000941943.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "R",
"aa_start": 1510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 4881,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4529,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000941942.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4529G>C",
"hgvs_p": "p.Arg1510Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612001.1",
"strand": false,
"transcript": "ENST00000941942.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "R",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5419,
"cdna_start": 4624,
"cds_end": null,
"cds_length": 4770,
"cds_start": 4430,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_019856.2",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4430G>C",
"hgvs_p": "p.Arg1477Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_062830.1",
"strand": false,
"transcript": "NM_019856.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "R",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5545,
"cdna_start": 4749,
"cds_end": null,
"cds_length": 4770,
"cds_start": 4430,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000941945.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4430G>C",
"hgvs_p": "p.Arg1477Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612004.1",
"strand": false,
"transcript": "ENST00000941945.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "R",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 3394,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3200,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000941944.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.3200G>C",
"hgvs_p": "p.Arg1067Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612003.1",
"strand": false,
"transcript": "ENST00000941944.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1726,
"aa_ref": "R",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5816,
"cdna_start": 5021,
"cds_end": null,
"cds_length": 5181,
"cds_start": 4841,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_047437909.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4841G>C",
"hgvs_p": "p.Arg1614Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293865.1",
"strand": false,
"transcript": "XM_047437909.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1714,
"aa_ref": "R",
"aa_start": 1602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 4985,
"cds_end": null,
"cds_length": 5145,
"cds_start": 4805,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_017026062.2",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4805G>C",
"hgvs_p": "p.Arg1602Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881551.2",
"strand": false,
"transcript": "XM_017026062.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1685,
"aa_ref": "R",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 6124,
"cds_end": null,
"cds_length": 5058,
"cds_start": 4718,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_047437910.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4718G>C",
"hgvs_p": "p.Arg1573Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293866.1",
"strand": false,
"transcript": "XM_047437910.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "R",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 4733,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4553,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_047437911.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "c.4553G>C",
"hgvs_p": "p.Arg1518Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293867.1",
"strand": false,
"transcript": "XM_047437911.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000581804.1",
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"hgvs_c": "n.208G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000581804.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs117342470",
"effect": "missense_variant",
"frequency_reference_population": 0.0000018696155,
"gene_hgnc_id": 7613,
"gene_symbol": "MYOM1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137697,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657255,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Hypertrophic cardiomyopathy|not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.66,
"pos": 3071880,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.523,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003803.4"
}
]
}