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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: 11-247329-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=247329&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 247329,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000532097.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Leu",
"transcript": "NM_002817.4",
"protein_id": "NP_002808.3",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 376,
"cds_start": 449,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": "ENST00000532097.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Leu",
"transcript": "ENST00000532097.6",
"protein_id": "ENSP00000436186.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 376,
"cds_start": 449,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": "NM_002817.4",
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*195C>T",
"hgvs_p": null,
"transcript": "ENST00000382671.8",
"protein_id": "ENSP00000372117.4",
"transcript_support_level": 1,
"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": 1489,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.416C>T",
"hgvs_p": null,
"transcript": "ENST00000527047.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*195C>T",
"hgvs_p": null,
"transcript": "ENST00000382671.8",
"protein_id": "ENSP00000372117.4",
"transcript_support_level": 1,
"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": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "NM_175932.3",
"protein_id": "NP_787128.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 378,
"cds_start": 455,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "ENST00000431206.6",
"protein_id": "ENSP00000396937.2",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 378,
"cds_start": 455,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Leu",
"transcript": "ENST00000352303.9",
"protein_id": "ENSP00000333811.5",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 349,
"cds_start": 449,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000528906.5",
"protein_id": "ENSP00000433364.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 262,
"cds_start": 335,
"cds_end": null,
"cds_length": 789,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000526783.1",
"protein_id": "ENSP00000433115.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 220,
"cds_start": 179,
"cds_end": null,
"cds_length": 663,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Leu",
"transcript": "XM_011520235.4",
"protein_id": "XP_011518537.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 310,
"cds_start": 449,
"cds_end": null,
"cds_length": 933,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1391,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*321C>T",
"hgvs_p": null,
"transcript": "ENST00000525665.5",
"protein_id": "ENSP00000434587.1",
"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": 1632,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*51C>T",
"hgvs_p": null,
"transcript": "ENST00000529372.5",
"protein_id": "ENSP00000436795.1",
"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": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*321C>T",
"hgvs_p": null,
"transcript": "ENST00000525665.5",
"protein_id": "ENSP00000434587.1",
"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": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*51C>T",
"hgvs_p": null,
"transcript": "ENST00000529372.5",
"protein_id": "ENSP00000436795.1",
"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": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"hgvs_c": "n.*29C>T",
"hgvs_p": null,
"transcript": "ENST00000534590.5",
"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": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PSMD13",
"gene_hgnc_id": 9558,
"dbsnp": "rs28927679",
"frequency_reference_population": 0.008031079,
"hom_count_reference_population": 75,
"allele_count_reference_population": 12962,
"gnomad_exomes_af": 0.00814869,
"gnomad_genomes_af": 0.00690212,
"gnomad_exomes_ac": 11911,
"gnomad_genomes_ac": 1051,
"gnomad_exomes_homalt": 66,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011199742555618286,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.1768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.933,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000532097.6",
"gene_symbol": "PSMD13",
"hgnc_id": 9558,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}