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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: X-153787134-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153787134&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153787134,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004135.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "NM_004135.4",
"protein_id": "NP_004126.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 393,
"cds_start": 694,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": "ENST00000217901.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004135.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000217901.10",
"protein_id": "ENSP00000217901.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 393,
"cds_start": 694,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": "NM_004135.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217901.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Phe37Leu",
"transcript": "ENST00000454076.5",
"protein_id": "ENSP00000400115.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 210,
"cds_start": 109,
"cds_end": null,
"cds_length": 633,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454076.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.793T>C",
"hgvs_p": "p.Phe265Leu",
"transcript": "ENST00000958656.1",
"protein_id": "ENSP00000628715.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 426,
"cds_start": 793,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958656.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Phe244Leu",
"transcript": "ENST00000958648.1",
"protein_id": "ENSP00000628707.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 405,
"cds_start": 730,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958648.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Phe230Leu",
"transcript": "ENST00000958650.1",
"protein_id": "ENSP00000628709.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 391,
"cds_start": 688,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958650.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.682T>C",
"hgvs_p": "p.Phe228Leu",
"transcript": "ENST00000854367.1",
"protein_id": "ENSP00000524426.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 389,
"cds_start": 682,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854367.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000958651.1",
"protein_id": "ENSP00000628710.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 384,
"cds_start": 694,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958651.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Phe221Leu",
"transcript": "ENST00000958653.1",
"protein_id": "ENSP00000628712.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 382,
"cds_start": 661,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958653.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "NM_174869.3",
"protein_id": "NP_777358.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 380,
"cds_start": 694,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174869.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000370092.7",
"protein_id": "ENSP00000359110.3",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 380,
"cds_start": 694,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370092.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.652T>C",
"hgvs_p": "p.Phe218Leu",
"transcript": "ENST00000958649.1",
"protein_id": "ENSP00000628708.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 379,
"cds_start": 652,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958649.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.640T>C",
"hgvs_p": "p.Phe214Leu",
"transcript": "ENST00000854366.1",
"protein_id": "ENSP00000524425.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 375,
"cds_start": 640,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854366.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000958655.1",
"protein_id": "ENSP00000628714.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 356,
"cds_start": 694,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958655.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000958652.1",
"protein_id": "ENSP00000628711.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 344,
"cds_start": 694,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958652.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000370093.5",
"protein_id": "ENSP00000359111.1",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 340,
"cds_start": 694,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370093.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.640T>C",
"hgvs_p": "p.Phe214Leu",
"transcript": "ENST00000918597.1",
"protein_id": "ENSP00000588656.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 326,
"cds_start": 640,
"cds_end": null,
"cds_length": 981,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918597.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.520T>C",
"hgvs_p": "p.Phe174Leu",
"transcript": "ENST00000427365.6",
"protein_id": "ENSP00000408529.2",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 322,
"cds_start": 520,
"cds_end": null,
"cds_length": 969,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427365.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.625T>C",
"hgvs_p": "p.Phe209Leu",
"transcript": "ENST00000444450.5",
"protein_id": "ENSP00000401862.1",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 284,
"cds_start": 625,
"cds_end": null,
"cds_length": 855,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444450.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Phe172Leu",
"transcript": "ENST00000444338.1",
"protein_id": "ENSP00000402747.1",
"transcript_support_level": 3,
"aa_start": 172,
"aa_end": null,
"aa_length": 198,
"cds_start": 514,
"cds_end": null,
"cds_length": 597,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.82-685T>C",
"hgvs_p": null,
"transcript": "ENST00000958654.1",
"protein_id": "ENSP00000628713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "n.844T>C",
"hgvs_p": null,
"transcript": "ENST00000497043.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497043.5"
}
],
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"dbsnp": "rs2092091803",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9556282758712769,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.921,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.175,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004135.4",
"gene_symbol": "IDH3G",
"hgnc_id": 5386,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu"
}
],
"clinvar_disease": "Spastic quadriplegic cerebral palsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spastic quadriplegic cerebral palsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}