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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: 19-50293648-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50293648&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MYH14",
"hgnc_id": 23212,
"hgvs_c": "c.5430G>A",
"hgvs_p": "p.Ser1810Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001145809.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 1184220,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 4A,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "S",
"aa_start": 1810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6914,
"cdna_start": 5483,
"cds_end": null,
"cds_length": 6111,
"cds_start": 5430,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001145809.2",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5430G>A",
"hgvs_p": "p.Ser1810Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642316.2",
"protein_coding": true,
"protein_id": "NP_001139281.1",
"strand": true,
"transcript": "NM_001145809.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "S",
"aa_start": 1810,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6914,
"cdna_start": 5483,
"cds_end": null,
"cds_length": 6111,
"cds_start": 5430,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000642316.2",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5430G>A",
"hgvs_p": "p.Ser1810Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145809.2",
"protein_coding": true,
"protein_id": "ENSP00000493594.1",
"strand": true,
"transcript": "ENST00000642316.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "S",
"aa_start": 1777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": 5384,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5331,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001077186.2",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5331G>A",
"hgvs_p": "p.Ser1777Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070654.1",
"strand": true,
"transcript": "NM_001077186.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "S",
"aa_start": 1777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": 5384,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5331,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000425460.6",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5331G>A",
"hgvs_p": "p.Ser1777Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407879.1",
"strand": true,
"transcript": "ENST00000425460.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "S",
"aa_start": 1777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6137,
"cdna_start": 5456,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5331,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000598205.5",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5331G>A",
"hgvs_p": "p.Ser1777Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472543.1",
"strand": true,
"transcript": "ENST00000598205.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "S",
"aa_start": 1777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7397,
"cdna_start": 5961,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5331,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000910081.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5331G>A",
"hgvs_p": "p.Ser1777Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580140.1",
"strand": true,
"transcript": "ENST00000910081.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "S",
"aa_start": 1777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6851,
"cdna_start": 5422,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5331,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000910082.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5331G>A",
"hgvs_p": "p.Ser1777Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580141.1",
"strand": true,
"transcript": "ENST00000910082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "S",
"aa_start": 1777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 5452,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5331,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000943713.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5331G>A",
"hgvs_p": "p.Ser1777Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613772.1",
"strand": true,
"transcript": "ENST00000943713.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1995,
"aa_ref": "S",
"aa_start": 1769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6791,
"cdna_start": 5360,
"cds_end": null,
"cds_length": 5988,
"cds_start": 5307,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_024729.4",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5307G>A",
"hgvs_p": "p.Ser1769Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079005.3",
"strand": true,
"transcript": "NM_024729.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1995,
"aa_ref": "S",
"aa_start": 1769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6787,
"cdna_start": 5354,
"cds_end": null,
"cds_length": 5988,
"cds_start": 5307,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000376970.6",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5307G>A",
"hgvs_p": "p.Ser1769Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366169.3",
"strand": true,
"transcript": "ENST00000376970.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1995,
"aa_ref": "S",
"aa_start": 1769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5988,
"cdna_start": 5307,
"cds_end": null,
"cds_length": 5988,
"cds_start": 5307,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000596571.5",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5307G>A",
"hgvs_p": "p.Ser1769Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472819.1",
"strand": true,
"transcript": "ENST00000596571.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1971,
"aa_ref": "S",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6793,
"cdna_start": 5359,
"cds_end": null,
"cds_length": 5916,
"cds_start": 5235,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000943710.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5235G>A",
"hgvs_p": "p.Ser1745Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613769.1",
"strand": true,
"transcript": "ENST00000943710.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1971,
"aa_ref": "S",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6706,
"cdna_start": 5276,
"cds_end": null,
"cds_length": 5916,
"cds_start": 5235,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000943712.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5235G>A",
"hgvs_p": "p.Ser1745Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613771.1",
"strand": true,
"transcript": "ENST00000943712.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1963,
"aa_ref": "S",
"aa_start": 1737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6707,
"cdna_start": 5276,
"cds_end": null,
"cds_length": 5892,
"cds_start": 5211,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000943711.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "c.5211G>A",
"hgvs_p": "p.Ser1737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613770.1",
"strand": true,
"transcript": "ENST00000943711.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000595016.1",
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"hgvs_c": "n.2609G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000595016.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3745509",
"effect": "synonymous_variant",
"frequency_reference_population": 0.73591155,
"gene_hgnc_id": 23212,
"gene_symbol": "MYH14",
"gnomad_exomes_ac": 1085114,
"gnomad_exomes_af": 0.744717,
"gnomad_exomes_homalt": 408106,
"gnomad_genomes_ac": 99106,
"gnomad_genomes_af": 0.651559,
"gnomad_genomes_homalt": 34886,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 442992,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Autosomal dominant nonsyndromic hearing loss 4A|Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.924,
"pos": 50293648,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001145809.2"
}
]
}