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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: 4-119186155-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=119186155&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 119186155,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016599.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr",
"transcript": "NM_016599.5",
"protein_id": "NP_057683.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 264,
"cds_start": 750,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307128.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016599.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr",
"transcript": "ENST00000307128.6",
"protein_id": "ENSP00000306997.6",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 264,
"cds_start": 750,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016599.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307128.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.843C>T",
"hgvs_p": "p.Thr281Thr",
"transcript": "ENST00000958711.1",
"protein_id": "ENSP00000628770.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 295,
"cds_start": 843,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958711.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr",
"transcript": "ENST00000890354.1",
"protein_id": "ENSP00000560413.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 264,
"cds_start": 750,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890354.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr",
"transcript": "ENST00000890356.1",
"protein_id": "ENSP00000560415.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 264,
"cds_start": 750,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890356.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr",
"transcript": "ENST00000958709.1",
"protein_id": "ENSP00000628768.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 264,
"cds_start": 750,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958709.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr",
"transcript": "ENST00000958710.1",
"protein_id": "ENSP00000628769.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 264,
"cds_start": 750,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958710.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.732C>T",
"hgvs_p": "p.Thr244Thr",
"transcript": "ENST00000890353.1",
"protein_id": "ENSP00000560412.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 258,
"cds_start": 732,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890353.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.609C>T",
"hgvs_p": "p.Thr203Thr",
"transcript": "ENST00000890355.1",
"protein_id": "ENSP00000560414.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 217,
"cds_start": 609,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"hgvs_c": "c.*163C>T",
"hgvs_p": null,
"transcript": "NM_001440645.1",
"protein_id": "NP_001427574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440645.1"
}
],
"gene_symbol": "MYOZ2",
"gene_hgnc_id": 1330,
"dbsnp": "rs17049982",
"frequency_reference_population": 0.0015597657,
"hom_count_reference_population": 32,
"allele_count_reference_population": 2517,
"gnomad_exomes_af": 0.000903829,
"gnomad_genomes_af": 0.00786097,
"gnomad_exomes_ac": 1321,
"gnomad_genomes_ac": 1196,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 16,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.4,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016599.5",
"gene_symbol": "MYOZ2",
"hgnc_id": 1330,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Thr250Thr"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 16,MYOZ2-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 16|MYOZ2-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}