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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: 15-50182837-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50182837&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC27A2",
"hgnc_id": 10996,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003645.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ATP8B4",
"hgnc_id": 13536,
"hgvs_c": "c.-619T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000558829.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": 0.0901,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3263440728187561,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 620,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1863,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_003645.4",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267842.10",
"protein_coding": true,
"protein_id": "NP_003636.2",
"strand": true,
"transcript": "NM_003645.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 620,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1863,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000267842.10",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003645.4",
"protein_coding": true,
"protein_id": "ENSP00000267842.5",
"strand": true,
"transcript": "ENST00000267842.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1704,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000380902.8",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370289.4",
"strand": true,
"transcript": "ENST00000380902.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1914,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000895509.1",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565568.1",
"strand": true,
"transcript": "ENST00000895509.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 629,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1890,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000895510.1",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565569.1",
"strand": true,
"transcript": "ENST00000895510.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 584,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1755,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000930364.1",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600423.1",
"strand": true,
"transcript": "ENST00000930364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1704,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001159629.2",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153101.1",
"strand": true,
"transcript": "NM_001159629.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 555,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1668,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000895511.1",
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565570.1",
"strand": true,
"transcript": "ENST00000895511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": null,
"cds_end": null,
"cds_length": 3579,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895127.1",
"gene_hgnc_id": 13536,
"gene_symbol": "ATP8B4",
"hgvs_c": "c.-725T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565186.1",
"strand": true,
"transcript": "ENST00000895127.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 52,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": null,
"cds_end": null,
"cds_length": 160,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558829.1",
"gene_hgnc_id": 13536,
"gene_symbol": "ATP8B4",
"hgvs_c": "c.-619T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453539.1",
"strand": true,
"transcript": "ENST00000558829.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146404462",
"effect": "missense_variant",
"frequency_reference_population": 0.000060749273,
"gene_hgnc_id": 10996,
"gene_symbol": "SLC27A2",
"gnomad_exomes_ac": 94,
"gnomad_exomes_af": 0.0000643361,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262964,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.569,
"pos": 50182837,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.231,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003645.4"
}
]
}