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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: 17-63831089-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63831089&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63831089,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002805.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Ile245Val",
"transcript": "NM_002805.6",
"protein_id": "NP_002796.4",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 406,
"cds_start": 733,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310144.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002805.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Ile245Val",
"transcript": "ENST00000310144.11",
"protein_id": "ENSP00000310572.6",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 406,
"cds_start": 733,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002805.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310144.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000961598.1",
"protein_id": "ENSP00000631657.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 404,
"cds_start": 727,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961598.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Ile245Val",
"transcript": "ENST00000935074.1",
"protein_id": "ENSP00000605133.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 403,
"cds_start": 733,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935074.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Ile239Val",
"transcript": "ENST00000961597.1",
"protein_id": "ENSP00000631656.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 400,
"cds_start": 715,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961597.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "NM_001199163.2",
"protein_id": "NP_001186092.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 398,
"cds_start": 709,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199163.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "ENST00000375812.8",
"protein_id": "ENSP00000364970.4",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 398,
"cds_start": 709,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375812.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "ENST00000580864.5",
"protein_id": "ENSP00000462495.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 398,
"cds_start": 709,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580864.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "ENST00000581882.5",
"protein_id": "ENSP00000463938.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 398,
"cds_start": 709,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581882.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Ile245Val",
"transcript": "ENST00000961599.1",
"protein_id": "ENSP00000631658.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 394,
"cds_start": 733,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961599.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.661A>G",
"hgvs_p": "p.Ile221Val",
"transcript": "ENST00000935075.1",
"protein_id": "ENSP00000605134.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 382,
"cds_start": 661,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935075.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Ile218Val",
"transcript": "ENST00000703609.1",
"protein_id": "ENSP00000515393.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 379,
"cds_start": 652,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703609.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.733A>G",
"hgvs_p": "p.Ile245Val",
"transcript": "ENST00000852530.1",
"protein_id": "ENSP00000522589.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 373,
"cds_start": 733,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852530.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Ile191Val",
"transcript": "ENST00000935079.1",
"protein_id": "ENSP00000605138.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 352,
"cds_start": 571,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935079.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Ile170Val",
"transcript": "ENST00000935077.1",
"protein_id": "ENSP00000605136.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 331,
"cds_start": 508,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935077.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.676A>G",
"hgvs_p": "p.Ile226Val",
"transcript": "ENST00000582130.5",
"protein_id": "ENSP00000463801.1",
"transcript_support_level": 3,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 676,
"cds_end": null,
"cds_length": 790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582130.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "ENST00000585123.5",
"protein_id": "ENSP00000464602.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 256,
"cds_start": 709,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585123.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Ile237Val",
"transcript": "ENST00000584320.5",
"protein_id": "ENSP00000462098.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 240,
"cds_start": 709,
"cds_end": null,
"cds_length": 725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584320.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"transcript": "ENST00000935073.1",
"protein_id": "ENSP00000605132.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 211,
"cds_start": 148,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935073.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.130A>G",
"hgvs_p": "p.Ile44Val",
"transcript": "ENST00000935076.1",
"protein_id": "ENSP00000605135.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 205,
"cds_start": 130,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935076.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Tyr250Cys",
"transcript": "XM_047436423.1",
"protein_id": "XP_047292379.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 272,
"cds_start": 749,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.265-238A>G",
"hgvs_p": null,
"transcript": "ENST00000935078.1",
"protein_id": "ENSP00000605137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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],
"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
}