← 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: 15-68142011-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68142011&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIAS1",
"hgnc_id": 2752,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Gln181Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001320687.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.5453,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.626140832901001,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7980,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1956,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016166.3",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Gln179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000249636.11",
"protein_coding": true,
"protein_id": "NP_057250.1",
"strand": true,
"transcript": "NM_016166.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7980,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1956,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000249636.11",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Gln179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016166.3",
"protein_coding": true,
"protein_id": "ENSP00000249636.6",
"strand": true,
"transcript": "ENST00000249636.11",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 697,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 561,
"cds_end": null,
"cds_length": 2094,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899735.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Gln179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569794.1",
"strand": true,
"transcript": "ENST00000899735.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 685,
"aa_ref": "Q",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 649,
"cds_end": null,
"cds_length": 2058,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899737.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.637C>A",
"hgvs_p": "p.Gln213Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569796.1",
"strand": true,
"transcript": "ENST00000899737.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 681,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2046,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899736.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Gln179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569795.1",
"strand": true,
"transcript": "ENST00000899736.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 653,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6332,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1962,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320687.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307616.1",
"strand": true,
"transcript": "NM_001320687.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 653,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1962,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000545237.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438574.1",
"strand": true,
"transcript": "ENST00000545237.1",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 649,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1950,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937336.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Gln179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607395.1",
"strand": true,
"transcript": "ENST00000937336.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 547,
"aa_ref": "Q",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1644,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964577.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Gln179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634636.1",
"strand": true,
"transcript": "ENST00000964577.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 660,
"aa_ref": "Q",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9084,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1983,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011522126.3",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Gln188Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520428.1",
"strand": true,
"transcript": "XM_011522126.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 653,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9543,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1962,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017022688.2",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878177.1",
"strand": true,
"transcript": "XM_017022688.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Q",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8600,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1938,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011522127.3",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Gln173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520429.1",
"strand": true,
"transcript": "XM_011522127.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 644,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8868,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1935,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017022689.2",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Gln172Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878178.1",
"strand": true,
"transcript": "XM_017022689.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7545,
"cdna_start": null,
"cds_end": null,
"cds_length": 1404,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047433197.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.-18C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289153.1",
"strand": true,
"transcript": "XM_047433197.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964578.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "c.470-22720C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634637.1",
"strand": true,
"transcript": "ENST00000964578.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562190.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "n.*625C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457698.1",
"strand": true,
"transcript": "ENST00000562190.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564915.5",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "n.*101C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456721.1",
"strand": true,
"transcript": "ENST00000564915.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562190.1",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "n.*625C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457698.1",
"strand": true,
"transcript": "ENST00000562190.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564915.5",
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"hgvs_c": "n.*101C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456721.1",
"strand": true,
"transcript": "ENST00000564915.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2092773994",
"effect": "missense_variant",
"frequency_reference_population": 0.0000018732719,
"gene_hgnc_id": 2752,
"gene_symbol": "PIAS1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.89956e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131486,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 68142011,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.241,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001320687.1"
}
]
}