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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: 17-63831415-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63831415&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63831415,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002805.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.959C>G",
"hgvs_p": "p.Pro320Arg",
"transcript": "NM_002805.6",
"protein_id": "NP_002796.4",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 406,
"cds_start": 959,
"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": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.959C>G",
"hgvs_p": "p.Pro320Arg",
"transcript": "ENST00000310144.11",
"protein_id": "ENSP00000310572.6",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 406,
"cds_start": 959,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.953C>G",
"hgvs_p": "p.Pro318Arg",
"transcript": "ENST00000961598.1",
"protein_id": "ENSP00000631657.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 404,
"cds_start": 953,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.959C>G",
"hgvs_p": "p.Pro320Arg",
"transcript": "ENST00000935074.1",
"protein_id": "ENSP00000605133.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 403,
"cds_start": 959,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Pro314Arg",
"transcript": "ENST00000961597.1",
"protein_id": "ENSP00000631656.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 400,
"cds_start": 941,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Pro312Arg",
"transcript": "NM_001199163.2",
"protein_id": "NP_001186092.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 398,
"cds_start": 935,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Pro312Arg",
"transcript": "ENST00000375812.8",
"protein_id": "ENSP00000364970.4",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 398,
"cds_start": 935,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.935C>G",
"hgvs_p": "p.Pro312Arg",
"transcript": "ENST00000580864.5",
"protein_id": "ENSP00000462495.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 398,
"cds_start": 935,
"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": "P",
"aa_alt": "R",
"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.935C>G",
"hgvs_p": "p.Pro312Arg",
"transcript": "ENST00000581882.5",
"protein_id": "ENSP00000463938.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 398,
"cds_start": 935,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.959C>G",
"hgvs_p": "p.Pro320Arg",
"transcript": "ENST00000961599.1",
"protein_id": "ENSP00000631658.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 394,
"cds_start": 959,
"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": "P",
"aa_alt": "R",
"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.887C>G",
"hgvs_p": "p.Pro296Arg",
"transcript": "ENST00000935075.1",
"protein_id": "ENSP00000605134.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 382,
"cds_start": 887,
"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": "P",
"aa_alt": "R",
"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.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "ENST00000703609.1",
"protein_id": "ENSP00000515393.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 379,
"cds_start": 878,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Pro266Arg",
"transcript": "ENST00000935079.1",
"protein_id": "ENSP00000605138.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 352,
"cds_start": 797,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.734C>G",
"hgvs_p": "p.Pro245Arg",
"transcript": "ENST00000935077.1",
"protein_id": "ENSP00000605136.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 331,
"cds_start": 734,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.374C>G",
"hgvs_p": "p.Pro125Arg",
"transcript": "ENST00000935073.1",
"protein_id": "ENSP00000605132.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 211,
"cds_start": 374,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.356C>G",
"hgvs_p": "p.Pro119Arg",
"transcript": "ENST00000935076.1",
"protein_id": "ENSP00000605135.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 205,
"cds_start": 356,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.353C>G",
"hgvs_p": "p.Pro118Arg",
"transcript": "ENST00000935078.1",
"protein_id": "ENSP00000605137.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 204,
"cds_start": 353,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935078.1"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "c.871-91C>G",
"hgvs_p": null,
"transcript": "ENST00000852530.1",
"protein_id": "ENSP00000522589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "n.1369C>G",
"hgvs_p": null,
"transcript": "ENST00000578570.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000578570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "n.763C>G",
"hgvs_p": null,
"transcript": "ENST00000579031.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000579031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.2274C>G",
"hgvs_p": null,
"transcript": "ENST00000579147.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000579147.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC5",
"gene_hgnc_id": 9552,
"hgvs_c": "n.534C>G",
"hgvs_p": null,
"transcript": "ENST00000580063.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000580063.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": false,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.917,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9962,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
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"PP5_Very_Strong"
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"verdict": "Pathogenic",
"transcript": "NM_002805.6",
"gene_symbol": "PSMC5",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Neurodevelopmental disorders,PSMC5-related Neurodevelopmental proteasomopathy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Neurodevelopmental disorders|PSMC5-related Neurodevelopmental proteasomopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}