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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: 2-236581261-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=236581261&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 236581261,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_020311.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "NM_020311.3",
"protein_id": "NP_064707.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272928.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020311.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000272928.4",
"protein_id": "ENSP00000272928.3",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020311.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272928.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000929731.1",
"protein_id": "ENSP00000599790.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929731.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000946093.1",
"protein_id": "ENSP00000616152.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946093.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000946094.1",
"protein_id": "ENSP00000616153.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946094.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000946095.1",
"protein_id": "ENSP00000616154.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946095.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000946096.1",
"protein_id": "ENSP00000616155.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946096.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000946097.1",
"protein_id": "ENSP00000616156.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946097.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "ENST00000946098.1",
"protein_id": "ENSP00000616157.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946098.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "XM_005246097.4",
"protein_id": "XP_005246154.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246097.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "XM_005246098.4",
"protein_id": "XP_005246155.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246098.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "XM_047445135.1",
"protein_id": "XP_047301091.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445135.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu",
"transcript": "XM_047445136.1",
"protein_id": "XP_047301092.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 362,
"cds_start": 796,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445136.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"hgvs_c": "c.*164C>T",
"hgvs_p": null,
"transcript": "ENST00000447924.1",
"protein_id": "ENSP00000405945.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447924.1"
}
],
"gene_symbol": "ACKR3",
"gene_hgnc_id": 23692,
"dbsnp": "rs1045879",
"frequency_reference_population": 0.27599025,
"hom_count_reference_population": 70825,
"allele_count_reference_population": 445371,
"gnomad_exomes_af": 0.267606,
"gnomad_genomes_af": 0.356559,
"gnomad_exomes_ac": 391137,
"gnomad_genomes_ac": 54234,
"gnomad_exomes_homalt": 58094,
"gnomad_genomes_homalt": 12731,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.859,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020311.3",
"gene_symbol": "ACKR3",
"hgnc_id": 23692,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Leu266Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}