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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: 20-34575208-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34575208&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34575208,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080476.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile",
"transcript": "NM_080476.5",
"protein_id": "NP_536724.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 435,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217446.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080476.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile",
"transcript": "ENST00000217446.8",
"protein_id": "ENSP00000217446.3",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 435,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080476.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217446.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Ile",
"transcript": "ENST00000374820.6",
"protein_id": "ENSP00000363953.2",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 415,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374820.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Val361Ile",
"transcript": "ENST00000940070.1",
"protein_id": "ENSP00000610129.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 432,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940070.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Val349Ile",
"transcript": "ENST00000949705.1",
"protein_id": "ENSP00000619764.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 420,
"cds_start": 1045,
"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": "ENST00000949705.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Val343Ile",
"transcript": "ENST00000940068.1",
"protein_id": "ENSP00000610127.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 414,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940068.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Val342Ile",
"transcript": "ENST00000897595.1",
"protein_id": "ENSP00000567654.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 413,
"cds_start": 1024,
"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": "ENST00000897595.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Ile",
"transcript": "ENST00000940072.1",
"protein_id": "ENSP00000610131.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 411,
"cds_start": 1018,
"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": "ENST00000940072.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile",
"transcript": "ENST00000897591.1",
"protein_id": "ENSP00000567650.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 406,
"cds_start": 1003,
"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": "ENST00000897591.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Ile",
"transcript": "ENST00000949703.1",
"protein_id": "ENSP00000619762.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 400,
"cds_start": 985,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949703.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Ile",
"transcript": "ENST00000940069.1",
"protein_id": "ENSP00000610128.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 394,
"cds_start": 967,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940069.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Ile",
"transcript": "ENST00000897592.1",
"protein_id": "ENSP00000567651.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 387,
"cds_start": 946,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897592.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Val307Ile",
"transcript": "ENST00000949704.1",
"protein_id": "ENSP00000619763.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 378,
"cds_start": 919,
"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": "ENST00000949704.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Val297Ile",
"transcript": "ENST00000940071.1",
"protein_id": "ENSP00000610130.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 368,
"cds_start": 889,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940071.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"transcript": "ENST00000897593.1",
"protein_id": "ENSP00000567652.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 362,
"cds_start": 871,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897593.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Val287Ile",
"transcript": "ENST00000897594.1",
"protein_id": "ENSP00000567653.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 358,
"cds_start": 859,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897594.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "ENST00000940073.1",
"protein_id": "ENSP00000610132.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 291,
"cds_start": 658,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940073.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000438215.1",
"protein_id": "ENSP00000395755.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 168,
"cds_start": 328,
"cds_end": null,
"cds_length": 509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438215.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Ile",
"transcript": "XM_017027664.2",
"protein_id": "XP_016883153.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 387,
"cds_start": 946,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027664.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Val148Ile",
"transcript": "XM_011528542.2",
"protein_id": "XP_011526844.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 219,
"cds_start": 442,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528542.2"
}
],
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"dbsnp": "rs201922552",
"frequency_reference_population": 0.00014188669,
"hom_count_reference_population": 0,
"allele_count_reference_population": 229,
"gnomad_exomes_af": 0.000148442,
"gnomad_genomes_af": 0.0000788882,
"gnomad_exomes_ac": 217,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11519026756286621,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.596,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_080476.5",
"gene_symbol": "PIGU",
"hgnc_id": 15791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}