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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-153548788-GCTGGTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153548788&ref=GCTGGTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153548788,
"ref": "GCTGGTC",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000263519.5",
"consequences": [
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "NM_001001344.3",
"protein_id": "NP_001001344.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6774,
"mane_select": "ENST00000263519.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "ENST00000263519.5",
"protein_id": "ENSP00000263519.4",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6774,
"mane_select": "NM_001001344.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "ENST00000359149.9",
"protein_id": "ENSP00000352062.3",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "NM_001388362.1",
"protein_id": "NP_001375291.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "ENST00000496610.2",
"protein_id": "ENSP00000516173.1",
"transcript_support_level": 3,
"aa_start": 425,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "NM_001388361.1",
"protein_id": "NP_001375290.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 6654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "ENST00000349466.6",
"protein_id": "ENSP00000343886.2",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1309_1314delCTGGTC",
"hgvs_p": "p.Leu437_Val438del",
"transcript": "ENST00000705862.1",
"protein_id": "ENSP00000516174.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1185,
"cds_start": 1309,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "NM_001388360.1",
"protein_id": "NP_001375289.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "NM_021949.4",
"protein_id": "NP_068768.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "ENST00000370186.5",
"protein_id": "ENSP00000359205.1",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "NM_001410708.1",
"protein_id": "NP_001397637.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "ENST00000393842.5",
"protein_id": "ENSP00000377425.1",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1309_1314delCTGGTC",
"hgvs_p": "p.Leu437_Val438del",
"transcript": "XM_017029553.2",
"protein_id": "XP_016885042.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1274,
"cds_start": 1309,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "XM_005274689.4",
"protein_id": "XP_005274746.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "XM_011531177.3",
"protein_id": "XP_011529479.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1248,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 6164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "XM_005274691.4",
"protein_id": "XP_005274748.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 6732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del",
"transcript": "XM_047442141.1",
"protein_id": "XP_047298097.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "XM_024452386.2",
"protein_id": "XP_024308154.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 6886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "c.1231_1236delCTGGTC",
"hgvs_p": "p.Leu411_Val412del",
"transcript": "XM_047442142.1",
"protein_id": "XP_047298098.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "n.1273_1278delCTGGTC",
"hgvs_p": null,
"transcript": "ENST00000683064.1",
"protein_id": "ENSP00000508126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"hgvs_c": "n.1726_1731delCTGGTC",
"hgvs_p": null,
"transcript": "ENST00000684004.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP2B3",
"gene_hgnc_id": 816,
"dbsnp": "rs724160011",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.901,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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,PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM4",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000263519.5",
"gene_symbol": "ATP2B3",
"hgnc_id": 816,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.1273_1278delCTGGTC",
"hgvs_p": "p.Leu425_Val426del"
}
],
"clinvar_disease": "Aldosterone-producing adrenal cortex adenoma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Aldosterone-producing adrenal cortex adenoma",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}