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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: 1-47142179-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47142179&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 47142179,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371891.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "NM_001010969.4",
"protein_id": "NP_001010969.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 519,
"cds_start": 454,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": "ENST00000371891.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "ENST00000371891.8",
"protein_id": "ENSP00000360958.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 519,
"cds_start": 454,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": "NM_001010969.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "ENST00000294337.7",
"protein_id": "ENSP00000294337.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 455,
"cds_start": 454,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "ENST00000619754.4",
"protein_id": "ENSP00000482952.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 357,
"cds_start": 454,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "NM_001437457.1",
"protein_id": "NP_001424386.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 421,
"cds_start": 454,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "ENST00000371890.7",
"protein_id": "ENSP00000360957.3",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 421,
"cds_start": 454,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "NM_001308102.2",
"protein_id": "NP_001295031.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 357,
"cds_start": 454,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "XM_047418181.1",
"protein_id": "XP_047274137.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 333,
"cds_start": 454,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr",
"transcript": "XM_005270770.4",
"protein_id": "XP_005270827.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 261,
"cds_start": 454,
"cds_end": null,
"cds_length": 786,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "n.505A>T",
"hgvs_p": null,
"transcript": "ENST00000485117.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "n.505A>T",
"hgvs_p": null,
"transcript": "ENST00000490948.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.396+34856T>A",
"hgvs_p": null,
"transcript": "ENST00000444042.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.1123+30670T>A",
"hgvs_p": null,
"transcript": "ENST00000815597.1",
"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": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.1114+30670T>A",
"hgvs_p": null,
"transcript": "NR_189276.1",
"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": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.1160+30670T>A",
"hgvs_p": null,
"transcript": "NR_199717.1",
"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": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"dbsnp": "rs2056899",
"frequency_reference_population": 0.45764306,
"hom_count_reference_population": 187716,
"allele_count_reference_population": 738300,
"gnomad_exomes_af": 0.446769,
"gnomad_genomes_af": 0.562243,
"gnomad_exomes_ac": 652884,
"gnomad_genomes_ac": 85416,
"gnomad_exomes_homalt": 159933,
"gnomad_genomes_homalt": 27783,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000015095486105565215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.0626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.184,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000371891.8",
"gene_symbol": "CYP4A22",
"hgnc_id": 20575,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.454A>T",
"hgvs_p": "p.Asn152Tyr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_189276.1",
"gene_symbol": "CYP4A22-AS1",
"hgnc_id": 43715,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1114+30670T>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
}