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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: 17-42218219-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42218219&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42218219,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_012448.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "NM_012448.4",
"protein_id": "NP_036580.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293328.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012448.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000293328.8",
"protein_id": "ENSP00000293328.3",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012448.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293328.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.1270C>A",
"hgvs_p": null,
"transcript": "ENST00000468312.1",
"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": "ENST00000468312.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951702.1",
"protein_id": "ENSP00000621761.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 820,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951702.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000415845.2",
"protein_id": "ENSP00000398379.2",
"transcript_support_level": 4,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415845.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000698776.1",
"protein_id": "ENSP00000513923.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698776.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000698777.1",
"protein_id": "ENSP00000513924.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698777.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000903577.1",
"protein_id": "ENSP00000573636.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903577.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951703.1",
"protein_id": "ENSP00000621762.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951703.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951706.1",
"protein_id": "ENSP00000621765.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951706.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951707.1",
"protein_id": "ENSP00000621766.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 787,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951707.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1098C>A",
"hgvs_p": "p.Pro366Pro",
"transcript": "ENST00000698808.1",
"protein_id": "ENSP00000513947.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 786,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698808.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951701.1",
"protein_id": "ENSP00000621760.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 786,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951701.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1095C>A",
"hgvs_p": "p.Pro365Pro",
"transcript": "ENST00000914417.1",
"protein_id": "ENSP00000584476.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 785,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914417.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Pro347Pro",
"transcript": "ENST00000903578.1",
"protein_id": "ENSP00000573637.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 767,
"cds_start": 1041,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903578.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000698778.1",
"protein_id": "ENSP00000513925.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 766,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698778.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000903579.1",
"protein_id": "ENSP00000573638.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 766,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903579.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000698809.1",
"protein_id": "ENSP00000513948.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 756,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698809.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951705.1",
"protein_id": "ENSP00000621764.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 751,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951705.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000698779.1",
"protein_id": "ENSP00000513926.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 746,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698779.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.945C>A",
"hgvs_p": "p.Pro315Pro",
"transcript": "ENST00000914413.1",
"protein_id": "ENSP00000584472.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 735,
"cds_start": 945,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914413.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro",
"transcript": "ENST00000951704.1",
"protein_id": "ENSP00000621763.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 730,
"cds_start": 1101,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"dbsnp": "rs61749920",
"frequency_reference_population": 0.02461137,
"hom_count_reference_population": 667,
"allele_count_reference_population": 39726,
"gnomad_exomes_af": 0.0252147,
"gnomad_genomes_af": 0.0188185,
"gnomad_exomes_ac": 36861,
"gnomad_genomes_ac": 2865,
"gnomad_exomes_homalt": 628,
"gnomad_genomes_homalt": 39,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.217,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012448.4",
"gene_symbol": "STAT5B",
"hgnc_id": 11367,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.1101C>A",
"hgvs_p": "p.Pro367Pro"
}
],
"clinvar_disease": " autosomal recessive,Growth hormone insensitivity with immune dysregulation 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}