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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: 5-38904380-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=38904380&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 38904380,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000274276.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "NM_003999.3",
"protein_id": "NP_003990.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 979,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 5526,
"mane_select": "ENST00000274276.8",
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "ENST00000274276.8",
"protein_id": "ENSP00000274276.3",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 979,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 5526,
"mane_select": "NM_003999.3",
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "NM_001323506.2",
"protein_id": "NP_001310435.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 980,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5268,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "NM_001323505.2",
"protein_id": "NP_001310434.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 979,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5265,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "NM_001323507.2",
"protein_id": "NP_001310436.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 581,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2064,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "XM_005248384.1",
"protein_id": "XP_005248441.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 980,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 5529,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "XM_047417870.1",
"protein_id": "XP_047273826.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 980,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 5378,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "XM_047417871.1",
"protein_id": "XP_047273827.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 979,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 5361,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "XM_011514161.3",
"protein_id": "XP_011512463.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 800,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 4138,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "XM_017010019.2",
"protein_id": "XP_016865508.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 799,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4135,
"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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "XM_047417872.1",
"protein_id": "XP_047273828.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 799,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 3874,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "XM_005248386.3",
"protein_id": "XP_005248443.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 582,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2328,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "XM_047417873.1",
"protein_id": "XP_047273829.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 582,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2067,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "XM_005248387.3",
"protein_id": "XP_005248444.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 581,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "n.1551G>A",
"hgvs_p": null,
"transcript": "XR_007058659.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "n.1290G>A",
"hgvs_p": null,
"transcript": "XR_007058660.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "n.1554G>A",
"hgvs_p": null,
"transcript": "XR_925661.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"hgvs_c": "c.-18G>A",
"hgvs_p": null,
"transcript": "ENST00000513831.1",
"protein_id": "ENSP00000423913.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSMR",
"gene_hgnc_id": 8507,
"dbsnp": "rs35727755",
"frequency_reference_population": 0.0020663051,
"hom_count_reference_population": 53,
"allele_count_reference_population": 3335,
"gnomad_exomes_af": 0.0011835,
"gnomad_genomes_af": 0.0105431,
"gnomad_exomes_ac": 1730,
"gnomad_genomes_ac": 1605,
"gnomad_exomes_homalt": 30,
"gnomad_genomes_homalt": 23,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0040576159954071045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.636,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": "ENST00000274276.8",
"gene_symbol": "OSMR",
"hgnc_id": 8507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}