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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: 19-50281600-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50281600&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50281600,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145809.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4297G>A",
"hgvs_p": "p.Glu1433Lys",
"transcript": "NM_001145809.2",
"protein_id": "NP_001139281.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 2036,
"cds_start": 4297,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 4350,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "ENST00000642316.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4297G>A",
"hgvs_p": "p.Glu1433Lys",
"transcript": "ENST00000642316.2",
"protein_id": "ENSP00000493594.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 2036,
"cds_start": 4297,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 4350,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "NM_001145809.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Glu1400Lys",
"transcript": "NM_001077186.2",
"protein_id": "NP_001070654.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 2003,
"cds_start": 4198,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 4251,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Glu1400Lys",
"transcript": "ENST00000425460.6",
"protein_id": "ENSP00000407879.1",
"transcript_support_level": 5,
"aa_start": 1400,
"aa_end": null,
"aa_length": 2003,
"cds_start": 4198,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 4251,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Glu1400Lys",
"transcript": "ENST00000598205.5",
"protein_id": "ENSP00000472543.1",
"transcript_support_level": 5,
"aa_start": 1400,
"aa_end": null,
"aa_length": 2003,
"cds_start": 4198,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 4323,
"cdna_end": null,
"cdna_length": 6137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4174G>A",
"hgvs_p": "p.Glu1392Lys",
"transcript": "NM_024729.4",
"protein_id": "NP_079005.3",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1995,
"cds_start": 4174,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 4227,
"cdna_end": null,
"cdna_length": 6791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4174G>A",
"hgvs_p": "p.Glu1392Lys",
"transcript": "ENST00000376970.6",
"protein_id": "ENSP00000366169.3",
"transcript_support_level": 5,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1995,
"cds_start": 4174,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 4221,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.4174G>A",
"hgvs_p": "p.Glu1392Lys",
"transcript": "ENST00000596571.5",
"protein_id": "ENSP00000472819.1",
"transcript_support_level": 5,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1995,
"cds_start": 4174,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 4174,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"dbsnp": "rs771755654",
"frequency_reference_population": 0.00003592461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000327652,
"gnomad_genomes_af": 0.0000657004,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36064469814300537,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.391,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.506,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.61,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BP4,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001145809.2",
"gene_symbol": "MYH14",
"hgnc_id": 23212,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4297G>A",
"hgvs_p": "p.Glu1433Lys"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 4A,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "not specified|not provided|Autosomal dominant nonsyndromic hearing loss 4A",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}