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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: 8-143726189-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143726189&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM83H",
"hgnc_id": 24797,
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_198488.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 32,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.247,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05682092905044556,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198488.5",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000388913.4",
"protein_coding": true,
"protein_id": "NP_940890.4",
"strand": false,
"transcript": "NM_198488.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000388913.4",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198488.5",
"protein_coding": true,
"protein_id": "ENSP00000373565.3",
"strand": false,
"transcript": "ENST00000388913.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "S",
"aa_start": 1292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6131,
"cdna_start": 3875,
"cds_end": null,
"cds_length": 4143,
"cds_start": 3875,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650760.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3875C>T",
"hgvs_p": "p.Ser1292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499217.1",
"strand": false,
"transcript": "ENST00000650760.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6814,
"cdna_start": 4558,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935286.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605345.1",
"strand": false,
"transcript": "ENST00000935286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": 3563,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935287.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605346.1",
"strand": false,
"transcript": "ENST00000935287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 3556,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935288.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605347.1",
"strand": false,
"transcript": "ENST00000935288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 3790,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965822.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635881.1",
"strand": false,
"transcript": "ENST00000965822.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965823.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635882.1",
"strand": false,
"transcript": "ENST00000965823.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4830,
"cdna_start": 3952,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965824.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635883.1",
"strand": false,
"transcript": "ENST00000965824.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4527,
"cdna_start": 3799,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965825.1",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "c.3272C>T",
"hgvs_p": "p.Ser1091Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635884.1",
"strand": false,
"transcript": "ENST00000965825.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000395103.2",
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"hgvs_c": "n.2450C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000378535.2",
"strand": false,
"transcript": "ENST00000395103.2",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782756479",
"effect": "missense_variant",
"frequency_reference_population": 0.000019847965,
"gene_hgnc_id": 24797,
"gene_symbol": "FAM83H",
"gnomad_exomes_ac": 28,
"gnomad_exomes_af": 0.000019178,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262722,
"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 provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.364,
"pos": 143726189,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.051,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_198488.5"
}
]
}