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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: 1-159204893-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159204893&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159204893,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001122951.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-67T>C",
"hgvs_p": null,
"transcript": "NM_002036.4",
"protein_id": "NP_002027.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368122.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002036.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-67T>C",
"hgvs_p": null,
"transcript": "ENST00000368122.4",
"protein_id": "ENSP00000357104.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002036.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368122.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-111T>C",
"hgvs_p": null,
"transcript": "NM_001122951.3",
"protein_id": "NP_001116423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122951.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-111T>C",
"hgvs_p": null,
"transcript": "ENST00000368121.6",
"protein_id": "ENSP00000357103.2",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368121.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-67T>C",
"hgvs_p": null,
"transcript": "ENST00000714112.1",
"protein_id": "ENSP00000519404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-58-9T>C",
"hgvs_p": null,
"transcript": "ENST00000851528.1",
"protein_id": "ENSP00000521587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-53-14T>C",
"hgvs_p": null,
"transcript": "ENST00000960790.1",
"protein_id": "ENSP00000630849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-58-9T>C",
"hgvs_p": null,
"transcript": "ENST00000960791.1",
"protein_id": "ENSP00000630850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"hgvs_c": "c.-58-9T>C",
"hgvs_p": null,
"transcript": "ENST00000960792.1",
"protein_id": "ENSP00000630851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CADM3-AS1",
"gene_hgnc_id": 40812,
"hgvs_c": "n.164+2917A>G",
"hgvs_p": null,
"transcript": "ENST00000609696.1",
"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": "ENST00000609696.1"
}
],
"gene_symbol": "ACKR1",
"gene_hgnc_id": 4035,
"dbsnp": "rs2814778",
"frequency_reference_population": 0.04710572,
"hom_count_reference_population": 27684,
"allele_count_reference_population": 75632,
"gnomad_exomes_af": 0.0271037,
"gnomad_genomes_af": 0.238316,
"gnomad_exomes_ac": 39396,
"gnomad_genomes_ac": 36236,
"gnomad_exomes_homalt": 13322,
"gnomad_genomes_homalt": 14362,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.51,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP5_Moderate,BP4,BA1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate",
"BP4",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001122951.3",
"gene_symbol": "ACKR1",
"hgnc_id": 4035,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.-111T>C",
"hgvs_p": null
},
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate",
"BP4",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000609696.1",
"gene_symbol": "CADM3-AS1",
"hgnc_id": 40812,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.164+2917A>G",
"hgvs_p": null
}
],
"clinvar_disease": " FY(a-b-) PHENOTYPE,DUFFY BLOOD GROUP SYSTEM,Resistance to Plasmodium vivax infection,White blood cell count quantitative trait locus 1",
"clinvar_classification": " association, protective,Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Resistance to Plasmodium vivax infection|DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE|White blood cell count quantitative trait locus 1",
"pathogenicity_classification_combined": "Pathogenic; association; protective",
"custom_annotations": null
}
],
"message": null
}