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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: 5-144160557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=144160557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 144160557,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_030799.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"transcript": "NM_030799.9",
"protein_id": "NP_110426.4",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 257,
"cds_start": 614,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274496.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030799.9"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"transcript": "ENST00000274496.10",
"protein_id": "ENSP00000274496.5",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 257,
"cds_start": 614,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030799.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274496.10"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"transcript": "ENST00000448443.6",
"protein_id": "ENSP00000397704.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 257,
"cds_start": 614,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448443.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"transcript": "ENST00000513112.5",
"protein_id": "ENSP00000425422.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 203,
"cds_start": 452,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513112.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"transcript": "NM_001024947.4",
"protein_id": "NP_001020118.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 257,
"cds_start": 614,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024947.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Gly203Glu",
"transcript": "ENST00000956131.1",
"protein_id": "ENSP00000626190.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 255,
"cds_start": 608,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956131.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"transcript": "NM_001271732.2",
"protein_id": "NP_001258661.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 203,
"cds_start": 452,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271732.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Gly151Glu",
"transcript": "ENST00000519064.5",
"protein_id": "ENSP00000429777.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 176,
"cds_start": 452,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519064.5"
}
],
"gene_symbol": "YIPF5",
"gene_hgnc_id": 24877,
"dbsnp": "rs1265948005",
"frequency_reference_population": 6.861779e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86178e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8723001480102539,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.607,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.818,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030799.9",
"gene_symbol": "YIPF5",
"hgnc_id": 24877,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}