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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: 4-176222419-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=176222419&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 176222419,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_080874.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "NM_080874.4",
"protein_id": "NP_543150.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 329,
"cds_start": 278,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296525.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080874.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000296525.7",
"protein_id": "ENSP00000296525.3",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 329,
"cds_start": 278,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080874.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296525.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000855722.1",
"protein_id": "ENSP00000525781.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 329,
"cds_start": 278,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855722.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000855723.1",
"protein_id": "ENSP00000525782.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 329,
"cds_start": 278,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855723.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000945694.1",
"protein_id": "ENSP00000615753.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 329,
"cds_start": 278,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945694.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000855724.1",
"protein_id": "ENSP00000525783.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 314,
"cds_start": 278,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855724.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Gly48Val",
"transcript": "NM_001410863.1",
"protein_id": "NP_001397792.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 284,
"cds_start": 143,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410863.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Gly48Val",
"transcript": "ENST00000672074.1",
"protein_id": "ENSP00000500617.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 284,
"cds_start": 143,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672074.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000945695.1",
"protein_id": "ENSP00000615754.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 284,
"cds_start": 278,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945695.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Gly40Val",
"transcript": "ENST00000512254.1",
"protein_id": "ENSP00000422877.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 276,
"cds_start": 119,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512254.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "XM_005262759.2",
"protein_id": "XP_005262816.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 329,
"cds_start": 278,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262759.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Gly40Val",
"transcript": "XM_011531617.4",
"protein_id": "XP_011529919.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 276,
"cds_start": 119,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531617.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "c.277-819G>T",
"hgvs_p": null,
"transcript": "ENST00000945696.1",
"protein_id": "ENSP00000615755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"hgvs_c": "n.363G>T",
"hgvs_p": null,
"transcript": "ENST00000511879.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000511879.1"
}
],
"gene_symbol": "ASB5",
"gene_hgnc_id": 17180,
"dbsnp": "rs1254904088",
"frequency_reference_population": 0.0000012421681,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85918e-7,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9331870079040527,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8960000276565552,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.669,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.028,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.981050400657321,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080874.4",
"gene_symbol": "ASB5",
"hgnc_id": 17180,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val"
}
],
"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
}