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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: 11-116836094-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116836094&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116836094,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000236850.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "NM_000039.3",
"protein_id": "NP_000030.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 899,
"mane_select": "ENST00000236850.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "ENST00000236850.5",
"protein_id": "ENSP00000236850.3",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 899,
"mane_select": "NM_000039.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "ENST00000375323.5",
"protein_id": "ENSP00000364472.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "NM_001318017.2",
"protein_id": "NP_001304946.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "NM_001318018.2",
"protein_id": "NP_001304947.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "NM_001425090.1",
"protein_id": "NP_001412019.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "ENST00000359492.6",
"protein_id": "ENSP00000352471.2",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "ENST00000375320.5",
"protein_id": "ENSP00000364469.1",
"transcript_support_level": 3,
"aa_start": 173,
"aa_end": null,
"aa_length": 267,
"cds_start": 518,
"cds_end": null,
"cds_length": 804,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.473G>T",
"hgvs_p": "p.Arg158Leu",
"transcript": "NM_001425093.1",
"protein_id": "NP_001412022.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 252,
"cds_start": 473,
"cds_end": null,
"cds_length": 759,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.452G>T",
"hgvs_p": "p.Arg151Leu",
"transcript": "ENST00000375329.6",
"protein_id": "ENSP00000364478.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 245,
"cds_start": 452,
"cds_end": null,
"cds_length": 738,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_001318021.2",
"protein_id": "NP_001304950.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 158,
"cds_start": 191,
"cds_end": null,
"cds_length": 477,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_001425091.1",
"protein_id": "NP_001412020.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 158,
"cds_start": 191,
"cds_end": null,
"cds_length": 477,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Arg64Leu",
"transcript": "NM_001425092.1",
"protein_id": "NP_001412021.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 158,
"cds_start": 191,
"cds_end": null,
"cds_length": 477,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1-AS",
"gene_hgnc_id": 40079,
"hgvs_c": "n.-23C>A",
"hgvs_p": null,
"transcript": "ENST00000444200.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1-AS",
"gene_hgnc_id": 40079,
"hgvs_c": "n.-72C>A",
"hgvs_p": null,
"transcript": "ENST00000669664.1",
"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": 956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1-AS",
"gene_hgnc_id": 40079,
"hgvs_c": "n.-23C>A",
"hgvs_p": null,
"transcript": "NR_126362.1",
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"dbsnp": "rs387906571",
"frequency_reference_population": 6.868934e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86893e-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": 0.9318431615829468,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8184,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.379,
"phylop100way_prediction": "Benign",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000236850.5",
"gene_symbol": "APOA1",
"hgnc_id": 600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000444200.2",
"gene_symbol": "APOA1-AS",
"hgnc_id": 40079,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-23C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}