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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: 1-121177288-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=121177288&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM72B",
"hgnc_id": 24805,
"hgvs_c": "c.275G>A",
"hgvs_p": "p.Cys92Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001100910.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": 0.9488,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9754571914672852,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 149,
"aa_ref": "C",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 450,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001100910.2",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.275G>A",
"hgvs_p": "p.Cys92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369390.7",
"protein_coding": true,
"protein_id": "NP_001094380.1",
"strand": false,
"transcript": "NM_001100910.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 149,
"aa_ref": "C",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 450,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000369390.7",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.275G>A",
"hgvs_p": "p.Cys92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001100910.2",
"protein_coding": true,
"protein_id": "ENSP00000358397.3",
"strand": false,
"transcript": "ENST00000369390.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 109,
"aa_ref": "C",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 577,
"cds_end": null,
"cds_length": 330,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000355228.8",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347368.4",
"strand": false,
"transcript": "ENST00000355228.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 94,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": null,
"cds_end": null,
"cds_length": 285,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000619376.4",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.230+3983G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482799.1",
"strand": false,
"transcript": "ENST00000619376.4",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 149,
"aa_ref": "C",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"cdna_start": 345,
"cds_end": null,
"cds_length": 450,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471903.6",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.275G>A",
"hgvs_p": "p.Cys92Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484557.1",
"strand": false,
"transcript": "ENST00000471903.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 136,
"aa_ref": "C",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 411,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911613.1",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Cys79Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581672.1",
"strand": false,
"transcript": "ENST00000911613.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 120,
"aa_ref": "C",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": 567,
"cds_end": null,
"cds_length": 363,
"cds_start": 188,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000452190.2",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Cys63Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392882.1",
"strand": false,
"transcript": "ENST00000452190.2",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 109,
"aa_ref": "C",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 330,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001320149.2",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307078.1",
"strand": false,
"transcript": "NM_001320149.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468129.2",
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"hgvs_c": "n.*8G>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": "ENST00000468129.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs373032977",
"effect": "missense_variant",
"frequency_reference_population": 0.0000608034,
"gene_hgnc_id": 24805,
"gene_symbol": "FAM72B",
"gnomad_exomes_ac": 45,
"gnomad_exomes_af": 0.0000308293,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 53,
"gnomad_genomes_af": 0.00034845,
"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": 7.38,
"pos": 121177288,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.09000000357627869,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.09,
"transcript": "NM_001100910.2"
}
]
}