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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: 15-78168986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78168986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IDH3A",
"hgnc_id": 5384,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_005530.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ACSBG1",
"hgnc_id": 29567,
"hgvs_c": "c.*2458C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015162.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1457,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43104088306427,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1101,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005530.3",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299518.7",
"protein_coding": true,
"protein_id": "NP_005521.1",
"strand": true,
"transcript": "NM_005530.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1101,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000299518.7",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005530.3",
"protein_coding": true,
"protein_id": "ENSP00000299518.2",
"strand": true,
"transcript": "ENST00000299518.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 724,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6215,
"cdna_start": null,
"cds_end": null,
"cds_length": 2175,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015162.5",
"gene_hgnc_id": 29567,
"gene_symbol": "ACSBG1",
"hgvs_c": "c.*2458C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258873.9",
"protein_coding": true,
"protein_id": "NP_055977.3",
"strand": false,
"transcript": "NM_015162.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 724,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6215,
"cdna_start": null,
"cds_end": null,
"cds_length": 2175,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000258873.9",
"gene_hgnc_id": 29567,
"gene_symbol": "ACSBG1",
"hgvs_c": "c.*2458C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015162.5",
"protein_coding": true,
"protein_id": "ENSP00000258873.4",
"strand": false,
"transcript": "ENST00000258873.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000558535.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "n.1030G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000558535.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000559889.5",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "n.1773G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000559889.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 374,
"aa_ref": "R",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1125,
"cds_start": 1106,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889878.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559937.1",
"strand": true,
"transcript": "ENST00000889878.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1103,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889873.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559932.1",
"strand": true,
"transcript": "ENST00000889873.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889876.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559935.1",
"strand": true,
"transcript": "ENST00000889876.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1079,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000921734.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591793.1",
"strand": true,
"transcript": "ENST00000921734.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1077,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889871.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559930.1",
"strand": true,
"transcript": "ENST00000889871.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1065,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889872.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559931.1",
"strand": true,
"transcript": "ENST00000889872.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1041,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000943584.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613643.1",
"strand": true,
"transcript": "ENST00000943584.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1038,
"cds_start": 1019,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889877.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559936.1",
"strand": true,
"transcript": "ENST00000889877.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 996,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000558554.5",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453084.1",
"strand": true,
"transcript": "ENST00000558554.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 317,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 977,
"cds_end": null,
"cds_length": 954,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889874.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559933.1",
"strand": true,
"transcript": "ENST00000889874.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 315,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 968,
"cds_end": null,
"cds_length": 948,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889875.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559934.1",
"strand": true,
"transcript": "ENST00000889875.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 87,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": 269,
"cds_end": null,
"cds_length": 264,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000559205.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453989.1",
"strand": true,
"transcript": "ENST00000559205.1",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 951,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024449911.2",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305679.1",
"strand": true,
"transcript": "XM_024449911.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 951,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047432428.1",
"gene_hgnc_id": 5384,
"gene_symbol": "IDH3A",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288384.1",
"strand": true,
"transcript": "XM_047432428.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4850,
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