← Back to variant description
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: 17-67344616-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67344616&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67344616,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002816.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Val358Ala",
"transcript": "NM_002816.5",
"protein_id": "NP_002807.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 456,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356126.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002816.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Val358Ala",
"transcript": "ENST00000356126.8",
"protein_id": "ENSP00000348442.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 456,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002816.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356126.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "n.*1228T>C",
"hgvs_p": null,
"transcript": "ENST00000584008.5",
"protein_id": "ENSP00000462525.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000584008.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "n.*1228T>C",
"hgvs_p": null,
"transcript": "ENST00000584008.5",
"protein_id": "ENSP00000462525.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000584008.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Val414Ala",
"transcript": "ENST00000875731.1",
"protein_id": "ENSP00000545790.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 512,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875731.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000956699.1",
"protein_id": "ENSP00000626758.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 453,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956699.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Val355Ala",
"transcript": "ENST00000956700.1",
"protein_id": "ENSP00000626759.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 453,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956700.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "NM_174871.4",
"protein_id": "NP_777360.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174871.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "ENST00000357146.4",
"protein_id": "ENSP00000349667.4",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357146.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Val358Ala",
"transcript": "ENST00000875730.1",
"protein_id": "ENSP00000545789.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 430,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875730.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.965T>C",
"hgvs_p": "p.Val322Ala",
"transcript": "ENST00000875729.1",
"protein_id": "ENSP00000545788.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 420,
"cds_start": 965,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875729.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.944T>C",
"hgvs_p": "p.Val315Ala",
"transcript": "ENST00000956701.1",
"protein_id": "ENSP00000626760.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 413,
"cds_start": 944,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956701.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.938T>C",
"hgvs_p": "p.Val313Ala",
"transcript": "ENST00000875732.1",
"protein_id": "ENSP00000545791.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 411,
"cds_start": 938,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875732.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Val308Ala",
"transcript": "ENST00000956703.1",
"protein_id": "ENSP00000626762.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 406,
"cds_start": 923,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956703.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.896T>C",
"hgvs_p": "p.Val299Ala",
"transcript": "NM_001316341.2",
"protein_id": "NP_001303270.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 397,
"cds_start": 896,
"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": "NM_001316341.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Val295Ala",
"transcript": "ENST00000956702.1",
"protein_id": "ENSP00000626761.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 393,
"cds_start": 884,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.796-2353T>C",
"hgvs_p": null,
"transcript": "ENST00000875728.1",
"protein_id": "ENSP00000545787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875728.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.*154T>C",
"hgvs_p": null,
"transcript": "XM_047436440.1",
"protein_id": "XP_047292396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": null,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436440.1"
}
],
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"dbsnp": "rs2230680",
"frequency_reference_population": 0.00041915372,
"hom_count_reference_population": 6,
"allele_count_reference_population": 674,
"gnomad_exomes_af": 0.00023219,
"gnomad_genomes_af": 0.00220617,
"gnomad_exomes_ac": 338,
"gnomad_genomes_ac": 336,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012046128511428833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.456,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7711,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.887,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002816.5",
"gene_symbol": "PSMD12",
"hgnc_id": 9557,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Val358Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}