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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: 5-65518503-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=65518503&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CENPK",
"hgnc_id": 29479,
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Arg263Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001349367.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.231,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.29046544432640076,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 994,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022145.5",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396679.6",
"protein_coding": true,
"protein_id": "NP_071428.2",
"strand": false,
"transcript": "NM_022145.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 994,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396679.6",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022145.5",
"protein_coding": true,
"protein_id": "ENSP00000379911.1",
"strand": false,
"transcript": "ENST00000396679.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1576,
"cdna_start": 840,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000242872.7",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000242872.3",
"strand": false,
"transcript": "ENST00000242872.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 960,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000514814.5",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422421.1",
"strand": false,
"transcript": "ENST00000514814.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 843,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893575.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.815G>T",
"hgvs_p": "p.Arg272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563634.1",
"strand": false,
"transcript": "ENST00000893575.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 843,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893577.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.815G>T",
"hgvs_p": "p.Arg272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563636.1",
"strand": false,
"transcript": "ENST00000893577.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 271,
"aa_ref": "R",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 912,
"cds_end": null,
"cds_length": 816,
"cds_start": 788,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349367.2",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Arg263Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336296.1",
"strand": false,
"transcript": "NM_001349367.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 960,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001267038.2",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253967.1",
"strand": false,
"transcript": "NM_001267038.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 882,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893576.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563635.1",
"strand": false,
"transcript": "ENST00000893576.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893578.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563637.1",
"strand": false,
"transcript": "ENST00000893578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 946,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893579.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563638.1",
"strand": false,
"transcript": "ENST00000893579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 996,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929810.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599869.1",
"strand": false,
"transcript": "ENST00000929810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929813.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599872.1",
"strand": false,
"transcript": "ENST00000929813.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929815.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599874.1",
"strand": false,
"transcript": "ENST00000929815.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 810,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929816.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599875.1",
"strand": false,
"transcript": "ENST00000929816.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 879,
"cds_end": null,
"cds_length": 729,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929812.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.701G>T",
"hgvs_p": "p.Arg234Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599871.1",
"strand": false,
"transcript": "ENST00000929812.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 903,
"cds_end": null,
"cds_length": 720,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000508421.5",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421034.1",
"strand": false,
"transcript": "ENST00000508421.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 229,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 875,
"cds_end": null,
"cds_length": 690,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929811.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.662G>T",
"hgvs_p": "p.Arg221Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599870.1",
"strand": false,
"transcript": "ENST00000929811.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 206,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 847,
"cds_end": null,
"cds_length": 621,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001349368.2",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336297.1",
"strand": false,
"transcript": "NM_001349368.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 206,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 872,
"cds_end": null,
"cds_length": 621,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000510693.5",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425686.1",
"strand": false,
"transcript": "ENST00000510693.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 606,
"cds_end": null,
"cds_length": 501,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929814.1",
"gene_hgnc_id": 29479,
"gene_symbol": "CENPK",
"hgvs_c": "c.473G>T",
"hgvs_p": "p.Arg158Leu",
"intron_rank": null,
"intron_rank_end": null,
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