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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: 17-8880728-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8880728&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8880728,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014308.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2554A>C",
"hgvs_p": "p.Thr852Pro",
"transcript": "NM_001142633.3",
"protein_id": "NP_001136105.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 880,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447110.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142633.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2554A>C",
"hgvs_p": "p.Thr852Pro",
"transcript": "ENST00000447110.6",
"protein_id": "ENSP00000392812.1",
"transcript_support_level": 5,
"aa_start": 852,
"aa_end": null,
"aa_length": 880,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142633.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447110.6"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2554A>C",
"hgvs_p": "p.Thr852Pro",
"transcript": "ENST00000581552.5",
"protein_id": "ENSP00000462433.1",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 880,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581552.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "ENST00000623421.3",
"protein_id": "ENSP00000485280.1",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623421.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.*1743A>C",
"hgvs_p": null,
"transcript": "ENST00000269300.8",
"protein_id": "ENSP00000269300.3",
"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": "ENST00000269300.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.*1743A>C",
"hgvs_p": null,
"transcript": "ENST00000269300.8",
"protein_id": "ENSP00000269300.3",
"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": "ENST00000269300.8"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2554A>C",
"hgvs_p": "p.Thr852Pro",
"transcript": "NM_014308.4",
"protein_id": "NP_055123.2",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 880,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014308.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2551A>C",
"hgvs_p": "p.Thr851Pro",
"transcript": "NM_001388396.1",
"protein_id": "NP_001375325.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 879,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388396.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2551A>C",
"hgvs_p": "p.Thr851Pro",
"transcript": "ENST00000584803.1",
"protein_id": "ENSP00000462680.1",
"transcript_support_level": 5,
"aa_start": 851,
"aa_end": null,
"aa_length": 879,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584803.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1828A>C",
"hgvs_p": "p.Thr610Pro",
"transcript": "ENST00000935159.1",
"protein_id": "ENSP00000605218.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 638,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935159.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001251851.2",
"protein_id": "NP_001238780.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251851.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001251852.2",
"protein_id": "NP_001238781.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251852.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001251853.2",
"protein_id": "NP_001238782.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251853.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001251855.2",
"protein_id": "NP_001238784.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251855.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001388397.1",
"protein_id": "NP_001375326.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388397.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001388398.1",
"protein_id": "NP_001375327.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388398.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "NM_001388399.1",
"protein_id": "NP_001375328.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388399.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "ENST00000611902.4",
"protein_id": "ENSP00000477795.1",
"transcript_support_level": 5,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611902.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1396A>C",
"hgvs_p": "p.Thr466Pro",
"transcript": "ENST00000616147.4",
"protein_id": "ENSP00000484211.1",
"transcript_support_level": 5,
"aa_start": 466,
"aa_end": null,
"aa_length": 494,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616147.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1393A>C",
"hgvs_p": "p.Thr465Pro",
"transcript": "NM_001388400.1",
"protein_id": "NP_001375329.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 493,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388400.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2554A>C",
"hgvs_p": "p.Thr852Pro",
"transcript": "XM_047435709.1",
"protein_id": "XP_047291665.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 880,
"cds_start": 2554,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.*173A>C",
"hgvs_p": null,
"transcript": "ENST00000585260.5",
"protein_id": "ENSP00000462824.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
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"cds_length": 282,
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}