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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: 13-25952174-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=25952174&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 25952174,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000381655.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3184-9401C>T",
"hgvs_p": null,
"transcript": "NM_016529.6",
"protein_id": "NP_057613.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9672,
"mane_select": "ENST00000381655.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3184-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000381655.7",
"protein_id": "ENSP00000371070.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9672,
"mane_select": "NM_016529.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*3002-9401C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3109-9401C>T",
"hgvs_p": null,
"transcript": "NM_001411005.1",
"protein_id": "NP_001397934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1163,
"cds_start": -4,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3109-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000682472.1",
"protein_id": "ENSP00000508103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1163,
"cds_start": -4,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3064-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000684424.1",
"protein_id": "ENSP00000507489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2989-9401C>T",
"hgvs_p": null,
"transcript": "NM_001313741.1",
"protein_id": "NP_001300670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.3625-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000682942.1",
"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": 9134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*216-9401C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.3624-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000683845.1",
"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": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.3096-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000683945.1",
"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,
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"cdna_length": 8605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*70-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000683960.1",
"protein_id": "ENSP00000506846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 9778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.*216-9401C>T",
"hgvs_p": null,
"transcript": "ENST00000684283.1",
"protein_id": "ENSP00000507994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3064-9401C>T",
"hgvs_p": null,
"transcript": "XM_005266419.2",
"protein_id": "XP_005266476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3064-9401C>T",
"hgvs_p": null,
"transcript": "XM_011535104.3",
"protein_id": "XP_011533406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.3064-9401C>T",
"hgvs_p": null,
"transcript": "XM_047430383.1",
"protein_id": "XP_047286339.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2704-9401C>T",
"hgvs_p": null,
"transcript": "XM_011535109.4",
"protein_id": "XP_011533411.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1028,
"cds_start": -4,
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"cds_length": 3087,
"cdna_start": null,
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"cdna_length": 11210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.2590-9401C>T",
"hgvs_p": null,
"transcript": "XM_024449369.1",
"protein_id": "XP_024305137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": -4,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
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"cdna_length": 9072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"dbsnp": "rs7997094",
"frequency_reference_population": 0.1049981,
"hom_count_reference_population": 2117,
"allele_count_reference_population": 15970,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.104998,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 15970,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2117,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.062,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000381655.7",
"gene_symbol": "ATP8A2",
"hgnc_id": 13533,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3184-9401C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}