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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: 21-38403566-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38403566&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 38403566,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182918.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "NM_182918.4",
"protein_id": "NP_891548.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 479,
"cds_start": 532,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": "ENST00000288319.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "ENST00000288319.12",
"protein_id": "ENSP00000288319.7",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 479,
"cds_start": 532,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": "NM_182918.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "ENST00000398919.6",
"protein_id": "ENSP00000381891.2",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 486,
"cds_start": 553,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "ENST00000398905.5",
"protein_id": "ENSP00000381877.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 455,
"cds_start": 532,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "n.739A>G",
"hgvs_p": null,
"transcript": "ENST00000468474.5",
"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": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "NM_001136154.1",
"protein_id": "NP_001129626.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 486,
"cds_start": 553,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "NM_001243428.1",
"protein_id": "NP_001230357.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 486,
"cds_start": 553,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "ENST00000417133.6",
"protein_id": "ENSP00000414150.2",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 486,
"cds_start": 553,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "ENST00000398910.5",
"protein_id": "ENSP00000381881.1",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 463,
"cds_start": 553,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "NM_004449.4",
"protein_id": "NP_004440.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 462,
"cds_start": 553,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "ENST00000398911.5",
"protein_id": "ENSP00000381882.1",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 462,
"cds_start": 553,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "ENST00000442448.5",
"protein_id": "ENSP00000394694.1",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 462,
"cds_start": 553,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "ENST00000398907.5",
"protein_id": "ENSP00000381879.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 456,
"cds_start": 532,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "NM_001331025.2",
"protein_id": "NP_001317954.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 455,
"cds_start": 532,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "NM_001136155.1",
"protein_id": "NP_001129627.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 387,
"cds_start": 256,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "ENST00000453032.6",
"protein_id": "ENSP00000396268.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 387,
"cds_start": 256,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "NM_001243429.1",
"protein_id": "NP_001230358.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 363,
"cds_start": 256,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Arg86Gly",
"transcript": "ENST00000398897.5",
"protein_id": "ENSP00000381871.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 363,
"cds_start": 256,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "NM_001291391.1",
"protein_id": "NP_001278320.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 325,
"cds_start": 553,
"cds_end": null,
"cds_length": 978,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Arg185Gly",
"transcript": "NM_001243432.2",
"protein_id": "NP_001230361.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 317,
"cds_start": 553,
"cds_end": null,
"cds_length": 954,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "n.703A>G",
"hgvs_p": null,
"transcript": "ENST00000481609.5",
"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": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "n.514A>G",
"hgvs_p": null,
"transcript": "ENST00000492833.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 938,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"hgvs_c": "n.*38A>G",
"hgvs_p": null,
"transcript": "ENST00000473107.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERG",
"gene_hgnc_id": 3446,
"dbsnp": "rs981327491",
"frequency_reference_population": 0.0000024782257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7614048719406128,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5351,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.716,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182918.4",
"gene_symbol": "ERG",
"hgnc_id": 3446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.532A>G",
"hgvs_p": "p.Arg178Gly"
}
],
"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
}