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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: 13-25469044-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=25469044&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 25469044,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_016529.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "NM_016529.6",
"protein_id": "NP_057613.4",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1188,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "ENST00000381655.7",
"protein_id": "ENSP00000371070.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 1188,
"cds_start": 144,
"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": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.144A>C",
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "NM_001411005.1",
"protein_id": "NP_001397934.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1163,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "ENST00000682472.1",
"protein_id": "ENSP00000508103.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1163,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.24A>C",
"hgvs_p": "p.Gly8Gly",
"transcript": "ENST00000684424.1",
"protein_id": "ENSP00000507489.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1148,
"cds_start": 24,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.24A>C",
"hgvs_p": "p.Gly8Gly",
"transcript": "NM_001313741.1",
"protein_id": "NP_001300670.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1123,
"cds_start": 24,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "NM_001411006.1",
"protein_id": "NP_001397935.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1105,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.24A>C",
"hgvs_p": "p.Gly8Gly",
"transcript": "XM_005266419.2",
"protein_id": "XP_005266476.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1148,
"cds_start": 24,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.24A>C",
"hgvs_p": "p.Gly8Gly",
"transcript": "XM_047430383.1",
"protein_id": "XP_047286339.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1148,
"cds_start": 24,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "XM_011535107.4",
"protein_id": "XP_011533409.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1063,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "XM_011535113.3",
"protein_id": "XP_011533415.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 803,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "XM_017020625.3",
"protein_id": "XP_016876114.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 751,
"cds_start": 144,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly",
"transcript": "XM_017020626.2",
"protein_id": "XP_016876115.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 739,
"cds_start": 144,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.68A>C",
"hgvs_p": null,
"transcript": "ENST00000381648.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000381648.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.96A>C",
"hgvs_p": null,
"transcript": "ENST00000682580.1",
"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": "ENST00000682580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.144A>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.144A>C",
"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,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.144A>C",
"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": 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": "ENST00000683960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.209A>C",
"hgvs_p": null,
"transcript": "ENST00000684025.1",
"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": "retained_intron",
"feature": "ENST00000684025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "n.144A>C",
"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": 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": "ENST00000684283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"hgvs_c": "c.-105A>C",
"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": null,
"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"
}
],
"gene_symbol": "ATP8A2",
"gene_hgnc_id": 13533,
"dbsnp": "rs7317185",
"frequency_reference_population": 0.21171792,
"hom_count_reference_population": 37564,
"allele_count_reference_population": 341678,
"gnomad_exomes_af": 0.210175,
"gnomad_genomes_af": 0.226537,
"gnomad_exomes_ac": 307205,
"gnomad_genomes_ac": 34473,
"gnomad_exomes_homalt": 33361,
"gnomad_genomes_homalt": 4203,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.181,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016529.6",
"gene_symbol": "ATP8A2",
"hgnc_id": 13533,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.144A>C",
"hgvs_p": "p.Gly48Gly"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}