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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: 17-42712473-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42712473&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42712473,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321079.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001991.5",
"protein_id": "NP_001982.2",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 747,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428826.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001991.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000428826.7",
"protein_id": "ENSP00000404658.1",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 747,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001991.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428826.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"transcript": "ENST00000415827.6",
"protein_id": "ENSP00000407869.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 738,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415827.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.449G>A",
"hgvs_p": null,
"transcript": "ENST00000585550.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585550.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.1097G>A",
"hgvs_p": null,
"transcript": "ENST00000585912.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585912.5"
},
{
"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": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.*267G>A",
"hgvs_p": null,
"transcript": "ENST00000588239.5",
"protein_id": "ENSP00000468640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588239.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.1225G>A",
"hgvs_p": null,
"transcript": "ENST00000591330.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591330.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.*267G>A",
"hgvs_p": null,
"transcript": "ENST00000588239.5",
"protein_id": "ENSP00000468640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588239.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412His",
"transcript": "NM_001321079.2",
"protein_id": "NP_001308008.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 753,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321079.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000939633.1",
"protein_id": "ENSP00000609692.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 750,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939633.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1223G>A",
"hgvs_p": "p.Arg408His",
"transcript": "ENST00000909310.1",
"protein_id": "ENSP00000579369.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 749,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909310.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407His",
"transcript": "ENST00000909307.1",
"protein_id": "ENSP00000579366.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 748,
"cds_start": 1220,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909307.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000592743.5",
"protein_id": "ENSP00000466924.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 747,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592743.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000909311.1",
"protein_id": "ENSP00000579370.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 747,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909311.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"transcript": "NM_001321081.2",
"protein_id": "NP_001308010.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 738,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321081.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000939634.1",
"protein_id": "ENSP00000609693.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 723,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939634.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000966142.1",
"protein_id": "ENSP00000636201.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 715,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966142.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"transcript": "ENST00000909306.1",
"protein_id": "ENSP00000579365.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 714,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909306.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His",
"transcript": "NM_001321082.2",
"protein_id": "NP_001308011.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 707,
"cds_start": 1097,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321082.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His",
"transcript": "ENST00000585893.5",
"protein_id": "ENSP00000467871.1",
"transcript_support_level": 2,
"aa_start": 366,
"aa_end": null,
"aa_length": 707,
"cds_start": 1097,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585893.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000909308.1",
"protein_id": "ENSP00000579367.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 705,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909308.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000590078.5",
"protein_id": "ENSP00000465220.1",
"transcript_support_level": 2,
"aa_start": 336,
"aa_end": null,
"aa_length": 677,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590078.5"
},
{
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{
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{
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{
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{
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{
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{
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],
"gene_symbol": "EZH1",
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"dbsnp": "rs1597832055",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4382728338241577,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.819,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"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,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321079.2",
"gene_symbol": "EZH1",
"hgnc_id": 3526,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412His"
}
],
"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
}