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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: 14-90272352-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90272352&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90272352,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002802.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Lys423Arg",
"transcript": "NM_002802.3",
"protein_id": "NP_002793.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 440,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261303.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002802.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Lys423Arg",
"transcript": "ENST00000261303.13",
"protein_id": "ENSP00000261303.8",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 440,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002802.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261303.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDE2",
"gene_hgnc_id": 20186,
"hgvs_c": "c.*5984T>C",
"hgvs_p": null,
"transcript": "NM_017970.4",
"protein_id": "NP_060440.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354366.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017970.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRDE2",
"gene_hgnc_id": 20186,
"hgvs_c": "c.*5984T>C",
"hgvs_p": null,
"transcript": "ENST00000354366.8",
"protein_id": "ENSP00000346335.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017970.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354366.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1265A>G",
"hgvs_p": "p.Lys422Arg",
"transcript": "ENST00000906986.1",
"protein_id": "ENSP00000577045.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 439,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906986.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Lys418Arg",
"transcript": "ENST00000943594.1",
"protein_id": "ENSP00000613653.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 435,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943594.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1199A>G",
"hgvs_p": "p.Lys400Arg",
"transcript": "ENST00000906983.1",
"protein_id": "ENSP00000577042.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 417,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906983.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1196A>G",
"hgvs_p": "p.Lys399Arg",
"transcript": "ENST00000928147.1",
"protein_id": "ENSP00000598206.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 416,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928147.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Lys380Arg",
"transcript": "ENST00000906985.1",
"protein_id": "ENSP00000577044.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 397,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906985.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Lys361Arg",
"transcript": "ENST00000906984.1",
"protein_id": "ENSP00000577043.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 378,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906984.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1049A>G",
"hgvs_p": "p.Lys350Arg",
"transcript": "NM_001330212.2",
"protein_id": "NP_001317141.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 367,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330212.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.1049A>G",
"hgvs_p": "p.Lys350Arg",
"transcript": "ENST00000543772.2",
"protein_id": "ENSP00000445147.2",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 367,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543772.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Lys318Arg",
"transcript": "ENST00000928148.1",
"protein_id": "ENSP00000598207.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 335,
"cds_start": 953,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PSMC1",
"gene_hgnc_id": 9547,
"hgvs_c": "n.1974A>G",
"hgvs_p": null,
"transcript": "ENST00000555787.1",
"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": "ENST00000555787.1"
}
],
"gene_symbol": "PSMC1",
"gene_hgnc_id": 9547,
"dbsnp": "rs1169244113",
"frequency_reference_population": 0.000001378909,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137891,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25302374362945557,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.39,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.112,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.722,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002802.3",
"gene_symbol": "PSMC1",
"hgnc_id": 9547,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Lys423Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017970.4",
"gene_symbol": "NRDE2",
"hgnc_id": 20186,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*5984T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}