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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: 3-138655414-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138655414&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138655414,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006219.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "NM_006219.3",
"protein_id": "NP_006210.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006219.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000674063.1",
"protein_id": "ENSP00000501150.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006219.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674063.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "NM_001437286.1",
"protein_id": "NP_001424215.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437286.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "NM_001437287.1",
"protein_id": "NP_001424216.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437287.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "NM_001437288.1",
"protein_id": "NP_001424217.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437288.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "NM_001437293.1",
"protein_id": "NP_001424222.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437293.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000477593.6",
"protein_id": "ENSP00000418143.1",
"transcript_support_level": 5,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477593.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000894539.1",
"protein_id": "ENSP00000564598.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894539.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000894543.1",
"protein_id": "ENSP00000564602.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894543.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000894546.1",
"protein_id": "ENSP00000564605.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894546.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000938763.1",
"protein_id": "ENSP00000608822.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938763.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000938766.1",
"protein_id": "ENSP00000608825.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938766.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000938769.1",
"protein_id": "ENSP00000608828.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938769.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000955024.1",
"protein_id": "ENSP00000625083.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955024.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000955025.1",
"protein_id": "ENSP00000625084.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955025.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000955028.1",
"protein_id": "ENSP00000625087.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955028.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3188C>G",
"hgvs_p": "p.Thr1063Arg",
"transcript": "ENST00000955030.1",
"protein_id": "ENSP00000625089.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3188,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955030.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3185C>G",
"hgvs_p": "p.Thr1062Arg",
"transcript": "ENST00000894542.1",
"protein_id": "ENSP00000564601.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894542.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3146C>G",
"hgvs_p": "p.Thr1049Arg",
"transcript": "ENST00000894540.1",
"protein_id": "ENSP00000564599.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894540.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3146C>G",
"hgvs_p": "p.Thr1049Arg",
"transcript": "ENST00000955027.1",
"protein_id": "ENSP00000625085.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955027.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3137C>G",
"hgvs_p": "p.Thr1046Arg",
"transcript": "NM_001437289.1",
"protein_id": "NP_001424218.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437289.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.3137C>G",
"hgvs_p": "p.Thr1046Arg",
"transcript": "NM_001437290.1",
"protein_id": "NP_001424219.1",
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{
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],
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"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.281643271446228,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006219.3",
"gene_symbol": "PIK3CB",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}