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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: 4-119186143-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=119186143&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYOZ2",
"hgnc_id": 1330,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_016599.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 1750,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1031,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "4",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 16,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.028900563716888428,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 903,
"cds_end": null,
"cds_length": 795,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_016599.5",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307128.6",
"protein_coding": true,
"protein_id": "NP_057683.1",
"strand": true,
"transcript": "NM_016599.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 903,
"cds_end": null,
"cds_length": 795,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000307128.6",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016599.5",
"protein_coding": true,
"protein_id": "ENSP00000306997.6",
"strand": true,
"transcript": "ENST00000307128.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1093,
"cdna_start": 978,
"cds_end": null,
"cds_length": 888,
"cds_start": 831,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958711.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.831A>G",
"hgvs_p": "p.Ile277Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628770.1",
"strand": true,
"transcript": "ENST00000958711.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 980,
"cds_end": null,
"cds_length": 795,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890354.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560413.1",
"strand": true,
"transcript": "ENST00000890354.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1135,
"cdna_start": 887,
"cds_end": null,
"cds_length": 795,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890356.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560415.1",
"strand": true,
"transcript": "ENST00000890356.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1235,
"cdna_start": 998,
"cds_end": null,
"cds_length": 795,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000958709.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628768.1",
"strand": true,
"transcript": "ENST00000958709.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 808,
"cds_end": null,
"cds_length": 795,
"cds_start": 738,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000958710.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Ile246Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628769.1",
"strand": true,
"transcript": "ENST00000958710.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 258,
"aa_ref": "I",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 904,
"cds_end": null,
"cds_length": 777,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890353.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.720A>G",
"hgvs_p": "p.Ile240Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560412.1",
"strand": true,
"transcript": "ENST00000890353.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 217,
"aa_ref": "I",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1010,
"cdna_start": 762,
"cds_end": null,
"cds_length": 654,
"cds_start": 597,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890355.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ile199Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560414.1",
"strand": true,
"transcript": "ENST00000890355.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 210,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": 633,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440645.1",
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"hgvs_c": "c.*151A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427574.1",
"strand": true,
"transcript": "NM_001440645.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140126678",
"effect": "missense_variant",
"frequency_reference_population": 0.0010842291,
"gene_hgnc_id": 1330,
"gene_symbol": "MYOZ2",
"gnomad_exomes_ac": 1443,
"gnomad_exomes_af": 0.000987178,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_ac": 307,
"gnomad_genomes_af": 0.00201565,
"gnomad_genomes_homalt": 4,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 18,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Hypertrophic cardiomyopathy 16|not provided|not specified|Hypertrophic cardiomyopathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.008,
"pos": 119186143,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.278,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016599.5"
}
]
}