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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: 15-78168982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78168982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78168982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005530.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Cys",
"transcript": "NM_005530.3",
"protein_id": "NP_005521.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 366,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299518.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005530.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Cys",
"transcript": "ENST00000299518.7",
"protein_id": "ENSP00000299518.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 366,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005530.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299518.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSBG1",
"gene_hgnc_id": 29567,
"hgvs_c": "c.*2462G>A",
"hgvs_p": null,
"transcript": "NM_015162.5",
"protein_id": "NP_055977.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258873.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015162.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSBG1",
"gene_hgnc_id": 29567,
"hgvs_c": "c.*2462G>A",
"hgvs_p": null,
"transcript": "ENST00000258873.9",
"protein_id": "ENSP00000258873.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015162.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258873.9"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "n.1026C>T",
"hgvs_p": null,
"transcript": "ENST00000558535.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000558535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "n.1769C>T",
"hgvs_p": null,
"transcript": "ENST00000559889.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000559889.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000889878.1",
"protein_id": "ENSP00000559937.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 374,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889878.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Cys",
"transcript": "ENST00000889873.1",
"protein_id": "ENSP00000559932.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 373,
"cds_start": 1099,
"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": "ENST00000889873.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"transcript": "ENST00000889876.1",
"protein_id": "ENSP00000559935.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 365,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889876.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"transcript": "ENST00000921734.1",
"protein_id": "ENSP00000591793.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 365,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921734.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "ENST00000889871.1",
"protein_id": "ENSP00000559930.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 358,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889871.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Arg348Cys",
"transcript": "ENST00000889872.1",
"protein_id": "ENSP00000559931.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 354,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889872.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Arg340Cys",
"transcript": "ENST00000943584.1",
"protein_id": "ENSP00000613643.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 346,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943584.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"transcript": "ENST00000889877.1",
"protein_id": "ENSP00000559936.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 345,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889877.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "ENST00000558554.5",
"protein_id": "ENSP00000453084.1",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 331,
"cds_start": 973,
"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": "ENST00000558554.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Cys",
"transcript": "ENST00000889874.1",
"protein_id": "ENSP00000559933.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 317,
"cds_start": 931,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889874.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"transcript": "ENST00000889875.1",
"protein_id": "ENSP00000559934.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 315,
"cds_start": 925,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889875.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Cys",
"transcript": "ENST00000559205.1",
"protein_id": "ENSP00000453989.1",
"transcript_support_level": 4,
"aa_start": 81,
"aa_end": null,
"aa_length": 87,
"cds_start": 241,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559205.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Cys",
"transcript": "XM_024449911.2",
"protein_id": "XP_024305679.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 316,
"cds_start": 928,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449911.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Cys",
"transcript": "XM_047432428.1",
"protein_id": "XP_047288384.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 316,
"cds_start": 928,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432428.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Cys",
"transcript": "XM_047432429.1",
"protein_id": "XP_047288385.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 316,
"cds_start": 928,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432429.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3A",
"gene_hgnc_id": 5384,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "XM_047432430.1",
"protein_id": "XP_047288386.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 257,
"cds_start": 751,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
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"computational_score_selected": 0.011196941137313843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.502,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005530.3",
"gene_symbol": "IDH3A",
"hgnc_id": 5384,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Cys"
},
{
"score": -16,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015162.5",
"gene_symbol": "ACSBG1",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "IDH3A-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|IDH3A-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}