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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: 20-34560896-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34560896&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34560896,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_080476.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Asp426Asp",
"transcript": "NM_080476.5",
"protein_id": "NP_536724.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 435,
"cds_start": 1278,
"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": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Asp426Asp",
"transcript": "ENST00000217446.8",
"protein_id": "ENSP00000217446.3",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 435,
"cds_start": 1278,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1218T>C",
"hgvs_p": "p.Asp406Asp",
"transcript": "ENST00000374820.6",
"protein_id": "ENSP00000363953.2",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 415,
"cds_start": 1218,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1269T>C",
"hgvs_p": "p.Asp423Asp",
"transcript": "ENST00000940070.1",
"protein_id": "ENSP00000610129.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 432,
"cds_start": 1269,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1233T>C",
"hgvs_p": "p.Asp411Asp",
"transcript": "ENST00000949705.1",
"protein_id": "ENSP00000619764.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 420,
"cds_start": 1233,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1215T>C",
"hgvs_p": "p.Asp405Asp",
"transcript": "ENST00000940068.1",
"protein_id": "ENSP00000610127.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 414,
"cds_start": 1215,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1212T>C",
"hgvs_p": "p.Asp404Asp",
"transcript": "ENST00000897595.1",
"protein_id": "ENSP00000567654.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 413,
"cds_start": 1212,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1206T>C",
"hgvs_p": "p.Asp402Asp",
"transcript": "ENST00000940072.1",
"protein_id": "ENSP00000610131.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 411,
"cds_start": 1206,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Asp397Asp",
"transcript": "ENST00000897591.1",
"protein_id": "ENSP00000567650.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 406,
"cds_start": 1191,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Asp391Asp",
"transcript": "ENST00000949703.1",
"protein_id": "ENSP00000619762.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 400,
"cds_start": 1173,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1155T>C",
"hgvs_p": "p.Asp385Asp",
"transcript": "ENST00000940069.1",
"protein_id": "ENSP00000610128.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 394,
"cds_start": 1155,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1134T>C",
"hgvs_p": "p.Asp378Asp",
"transcript": "ENST00000897592.1",
"protein_id": "ENSP00000567651.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 387,
"cds_start": 1134,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1107T>C",
"hgvs_p": "p.Asp369Asp",
"transcript": "ENST00000949704.1",
"protein_id": "ENSP00000619763.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 378,
"cds_start": 1107,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1077T>C",
"hgvs_p": "p.Asp359Asp",
"transcript": "ENST00000940071.1",
"protein_id": "ENSP00000610130.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 368,
"cds_start": 1077,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1059T>C",
"hgvs_p": "p.Asp353Asp",
"transcript": "ENST00000897593.1",
"protein_id": "ENSP00000567652.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 362,
"cds_start": 1059,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1047T>C",
"hgvs_p": "p.Asp349Asp",
"transcript": "ENST00000897594.1",
"protein_id": "ENSP00000567653.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 358,
"cds_start": 1047,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.846T>C",
"hgvs_p": "p.Asp282Asp",
"transcript": "ENST00000940073.1",
"protein_id": "ENSP00000610132.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 291,
"cds_start": 846,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.1134T>C",
"hgvs_p": "p.Asp378Asp",
"transcript": "XM_017027664.2",
"protein_id": "XP_016883153.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 387,
"cds_start": 1134,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.630T>C",
"hgvs_p": "p.Asp210Asp",
"transcript": "XM_011528542.2",
"protein_id": "XP_011526844.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 219,
"cds_start": 630,
"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"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"hgvs_c": "c.*7T>C",
"hgvs_p": null,
"transcript": "ENST00000438215.1",
"protein_id": "ENSP00000395755.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"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"
}
],
"gene_symbol": "PIGU",
"gene_hgnc_id": 15791,
"dbsnp": "rs1235656742",
"frequency_reference_population": 0.0000012405578,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84951e-7,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.674,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_080476.5",
"gene_symbol": "PIGU",
"hgnc_id": 15791,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Asp426Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}