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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: 21-38383546-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38383546&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 38383546,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182918.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Pro433Ser",
"transcript": "NM_182918.4",
"protein_id": "NP_891548.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 479,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": "ENST00000288319.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Pro433Ser",
"transcript": "ENST00000288319.12",
"protein_id": "ENSP00000288319.7",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 479,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": "NM_182918.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Pro440Ser",
"transcript": "ENST00000398919.6",
"protein_id": "ENSP00000381891.2",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 486,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000398905.5",
"protein_id": "ENSP00000381877.1",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 455,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Pro440Ser",
"transcript": "NM_001136154.1",
"protein_id": "NP_001129626.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 486,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Pro440Ser",
"transcript": "NM_001243428.1",
"protein_id": "NP_001230357.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 486,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Pro440Ser",
"transcript": "ENST00000417133.6",
"protein_id": "ENSP00000414150.2",
"transcript_support_level": 2,
"aa_start": 440,
"aa_end": null,
"aa_length": 486,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Pro417Ser",
"transcript": "ENST00000398910.5",
"protein_id": "ENSP00000381881.1",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 463,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Pro416Ser",
"transcript": "NM_004449.4",
"protein_id": "NP_004440.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 462,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Pro416Ser",
"transcript": "ENST00000398911.5",
"protein_id": "ENSP00000381882.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 462,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Pro416Ser",
"transcript": "ENST00000442448.5",
"protein_id": "ENSP00000394694.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 462,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Pro410Ser",
"transcript": "ENST00000398907.5",
"protein_id": "ENSP00000381879.1",
"transcript_support_level": 5,
"aa_start": 410,
"aa_end": null,
"aa_length": 456,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "NM_001331025.2",
"protein_id": "NP_001317954.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 455,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Pro341Ser",
"transcript": "NM_001136155.1",
"protein_id": "NP_001129627.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 387,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Pro341Ser",
"transcript": "ENST00000453032.6",
"protein_id": "ENSP00000396268.2",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 387,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"transcript": "NM_001243429.1",
"protein_id": "NP_001230358.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 363,
"cds_start": 949,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"transcript": "ENST00000398897.5",
"protein_id": "ENSP00000381871.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 363,
"cds_start": 949,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.940+7449C>T",
"hgvs_p": null,
"transcript": "NM_001243432.2",
"protein_id": "NP_001230361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"dbsnp": "rs200995073",
"frequency_reference_population": 0.00012168994,
"hom_count_reference_population": 1,
"allele_count_reference_population": 193,
"gnomad_exomes_af": 0.000133197,
"gnomad_genomes_af": 0.0000131548,
"gnomad_exomes_ac": 191,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18254125118255615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.867,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_182918.4",
"gene_symbol": "ERG",
"hgnc_id": 3446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Pro433Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}