← Back to variant description
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: 1-161222461-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161222461&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161222461,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001643.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "NM_001643.2",
"protein_id": "NP_001634.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367990.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001643.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000367990.7",
"protein_id": "ENSP00000356969.3",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001643.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367990.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000463273.6",
"protein_id": "ENSP00000476740.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463273.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.*30C>T",
"hgvs_p": null,
"transcript": "ENST00000491350.1",
"protein_id": "ENSP00000477353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": null,
"cds_end": null,
"cds_length": 84,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.201-8C>T",
"hgvs_p": null,
"transcript": "ENST00000470459.6",
"protein_id": "ENSP00000477031.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470459.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000464492.5",
"protein_id": "ENSP00000476911.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 133,
"cds_start": 346,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464492.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888433.1",
"protein_id": "ENSP00000558492.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888433.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888434.1",
"protein_id": "ENSP00000558493.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888434.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888435.1",
"protein_id": "ENSP00000558494.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888435.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888436.1",
"protein_id": "ENSP00000558495.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888436.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888437.1",
"protein_id": "ENSP00000558496.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888437.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888438.1",
"protein_id": "ENSP00000558497.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888438.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000888439.1",
"protein_id": "ENSP00000558498.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 100,
"cds_start": 247,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888439.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Leu35Leu",
"transcript": "ENST00000463812.1",
"protein_id": "ENSP00000476890.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 52,
"cds_start": 103,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463812.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Leu35Leu",
"transcript": "ENST00000468465.5",
"protein_id": "ENSP00000476662.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 52,
"cds_start": 103,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468465.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "n.758C>T",
"hgvs_p": null,
"transcript": "ENST00000481413.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000481413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"transcript": "ENST00000481511.5",
"protein_id": "ENSP00000477054.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000481511.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"transcript": "ENST00000481511.5",
"protein_id": "ENSP00000477054.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000481511.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"hgvs_c": "c.*47C>T",
"hgvs_p": null,
"transcript": "ENST00000469730.2",
"protein_id": "ENSP00000476605.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469730.2"
}
],
"gene_symbol": "APOA2",
"gene_hgnc_id": 601,
"dbsnp": "rs5088",
"frequency_reference_population": 0.0005810863,
"hom_count_reference_population": 5,
"allele_count_reference_population": 938,
"gnomad_exomes_af": 0.000324922,
"gnomad_genomes_af": 0.00303949,
"gnomad_exomes_ac": 475,
"gnomad_genomes_ac": 463,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.077,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_001643.2",
"gene_symbol": "APOA2",
"hgnc_id": 601,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}