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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: 19-54174099-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54174099&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54174099,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000245615.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455Gln",
"transcript": "NM_024298.5",
"protein_id": "NP_077274.3",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 472,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": "ENST00000245615.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455Gln",
"transcript": "ENST00000245615.6",
"protein_id": "ENSP00000245615.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 472,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": "NM_024298.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "ENST00000431666.6",
"protein_id": "ENSP00000410503.2",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 399,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.*1024G>A",
"hgvs_p": null,
"transcript": "ENST00000437868.5",
"protein_id": "ENSP00000404915.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.2359G>A",
"hgvs_p": null,
"transcript": "ENST00000494142.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.*1024G>A",
"hgvs_p": null,
"transcript": "ENST00000437868.5",
"protein_id": "ENSP00000404915.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "NM_001146056.3",
"protein_id": "NP_001139528.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 399,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "NM_001146083.3",
"protein_id": "NP_001139555.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 399,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "ENST00000338624.10",
"protein_id": "ENSP00000344377.5",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 399,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455Gln",
"transcript": "XM_011527299.4",
"protein_id": "XP_011525601.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 472,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455Gln",
"transcript": "XM_011527300.3",
"protein_id": "XP_011525602.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 472,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.*310G>A",
"hgvs_p": null,
"transcript": "ENST00000449249.5",
"protein_id": "ENSP00000406794.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"dbsnp": "rs79199039",
"frequency_reference_population": 0.01067948,
"hom_count_reference_population": 114,
"allele_count_reference_population": 17165,
"gnomad_exomes_af": 0.0109007,
"gnomad_genomes_af": 0.0085638,
"gnomad_exomes_ac": 15862,
"gnomad_genomes_ac": 1303,
"gnomad_exomes_homalt": 101,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027557313442230225,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.069,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000245615.6",
"gene_symbol": "MBOAT7",
"hgnc_id": 15505,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}