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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: 10-5162965-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5162965&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5162965,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000648824.2",
"consequences": [
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_001395972.1",
"protein_id": "NP_001382901.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 326,
"cds_start": 149,
"cds_end": null,
"cds_length": 981,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": "ENST00000648824.2",
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "ENST00000648824.2",
"protein_id": "ENSP00000496804.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 326,
"cds_start": 149,
"cds_end": null,
"cds_length": 981,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": "NM_001395972.1",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "ENST00000650030.1",
"protein_id": "ENSP00000497014.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 129,
"cds_start": 149,
"cds_end": null,
"cds_length": 390,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 492,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425156.1",
"protein_id": "XP_047281112.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 4440,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425157.1",
"protein_id": "XP_047281113.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 4452,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425158.1",
"protein_id": "XP_047281114.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 4121,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425159.1",
"protein_id": "XP_047281115.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3779,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425160.1",
"protein_id": "XP_047281116.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3774,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425161.1",
"protein_id": "XP_047281117.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3738,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425162.1",
"protein_id": "XP_047281118.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 2373,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425163.1",
"protein_id": "XP_047281119.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 398,
"cds_start": 149,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3413,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.59G>T",
"hgvs_p": "p.Arg20Leu",
"transcript": "XM_047425164.1",
"protein_id": "XP_047281120.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 368,
"cds_start": 59,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 4453,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425165.1",
"protein_id": "XP_047281121.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 368,
"cds_start": 149,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3286,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "XM_047425166.1",
"protein_id": "XP_047281122.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 219,
"cds_start": 149,
"cds_end": null,
"cds_length": 660,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "n.232G>T",
"hgvs_p": null,
"transcript": "ENST00000578467.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "n.149G>T",
"hgvs_p": null,
"transcript": "ENST00000584929.7",
"protein_id": "ENSP00000496857.1",
"transcript_support_level": 6,
"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": 1034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"hgvs_c": "n.195G>T",
"hgvs_p": null,
"transcript": "NR_027916.3",
"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": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKR1C8",
"gene_hgnc_id": 23469,
"dbsnp": "rs7097295",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17248621582984924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.4883,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.138,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648824.2",
"gene_symbol": "AKR1C8",
"hgnc_id": 23469,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}