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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: 13-25577115-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=25577115&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 25577115,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_016529.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "NM_016529.6",
"protein_id": "NP_057613.4",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1762,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381655.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016529.6"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "ENST00000381655.7",
"protein_id": "ENSP00000371070.2",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1762,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016529.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381655.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1388dupT",
"hgvs_p": null,
"transcript": "ENST00000281620.11",
"protein_id": "ENSP00000281620.7",
"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": "nonsense_mediated_decay",
"feature": "ENST00000281620.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.512dupT",
"hgvs_p": null,
"transcript": "ENST00000491840.1",
"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": "ENST00000491840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1388dupT",
"hgvs_p": null,
"transcript": "ENST00000281620.11",
"protein_id": "ENSP00000281620.7",
"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": "nonsense_mediated_decay",
"feature": "ENST00000281620.11"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "NM_001411005.1",
"protein_id": "NP_001397934.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1762,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411005.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "ENST00000682472.1",
"protein_id": "ENSP00000508103.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1762,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682472.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1641dupT",
"hgvs_p": "p.Arg548fs",
"transcript": "ENST00000684424.1",
"protein_id": "ENSP00000507489.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1642,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684424.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1641dupT",
"hgvs_p": "p.Arg548fs",
"transcript": "NM_001313741.1",
"protein_id": "NP_001300670.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1642,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313741.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "NM_001411006.1",
"protein_id": "NP_001397935.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1762,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411006.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1641dupT",
"hgvs_p": "p.Arg548fs",
"transcript": "XM_005266419.2",
"protein_id": "XP_005266476.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1642,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266419.2"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1641dupT",
"hgvs_p": "p.Arg548fs",
"transcript": "XM_011535104.3",
"protein_id": "XP_011533406.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1642,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535104.3"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1641dupT",
"hgvs_p": "p.Arg548fs",
"transcript": "XM_047430383.1",
"protein_id": "XP_047286339.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1642,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430383.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "XM_011535107.4",
"protein_id": "XP_011533409.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1762,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535107.4"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1281dupT",
"hgvs_p": "p.Arg428fs",
"transcript": "XM_011535109.4",
"protein_id": "XP_011533411.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1028,
"cds_start": 1282,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535109.4"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1167dupT",
"hgvs_p": "p.Arg390fs",
"transcript": "XM_024449369.1",
"protein_id": "XP_024305137.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 990,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449369.1"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "XM_011535113.3",
"protein_id": "XP_011533415.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 803,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535113.3"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "XM_017020625.3",
"protein_id": "XP_016876114.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 751,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020625.3"
},
{
"aa_ref": "R",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs",
"transcript": "XM_017020626.2",
"protein_id": "XP_016876115.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 739,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020626.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.2202dupT",
"hgvs_p": null,
"transcript": "ENST00000682942.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000682942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*1295dupT",
"hgvs_p": null,
"transcript": "ENST00000682943.1",
"protein_id": "ENSP00000507323.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000682943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.1761dupT",
"hgvs_p": null,
"transcript": "ENST00000683303.1",
"protein_id": "ENSP00000508339.1",
"transcript_support_level": null,
"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,
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],
"gene_symbol": "ATP8A2",
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"dbsnp": "rs1156904586",
"frequency_reference_population": 0.000001858925,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84111e-7,
"gnomad_genomes_af": 0.0000131506,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.585,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_016529.6",
"gene_symbol": "ATP8A2",
"hgnc_id": 13533,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1761dupT",
"hgvs_p": "p.Arg588fs"
}
],
"clinvar_disease": " and dysequilibrium syndrome 4, intellectual disability,ATP8A2-related disorder,Cerebellar ataxia,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Inborn genetic diseases|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|not provided|ATP8A2-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}