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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: 4-42485643-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=42485643&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 42485643,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006095.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.His726Arg",
"transcript": "NM_006095.2",
"protein_id": "NP_006086.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 8270,
"mane_select": "ENST00000381668.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006095.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.His726Arg",
"transcript": "ENST00000381668.9",
"protein_id": "ENSP00000371084.5",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 8270,
"mane_select": "NM_006095.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381668.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2132A>G",
"hgvs_p": "p.His711Arg",
"transcript": "ENST00000264449.14",
"protein_id": "ENSP00000264449.10",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2132,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264449.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.204+17807A>G",
"hgvs_p": null,
"transcript": "ENST00000514372.5",
"protein_id": "ENSP00000426495.1",
"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": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514372.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.His726Arg",
"transcript": "NM_001400024.1",
"protein_id": "NP_001386953.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 8270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400024.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.His726Arg",
"transcript": "ENST00000905753.1",
"protein_id": "ENSP00000575812.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905753.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2153A>G",
"hgvs_p": "p.His718Arg",
"transcript": "NM_001400025.1",
"protein_id": "NP_001386954.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400025.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2153A>G",
"hgvs_p": "p.His718Arg",
"transcript": "ENST00000905752.1",
"protein_id": "ENSP00000575811.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905752.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2132A>G",
"hgvs_p": "p.His711Arg",
"transcript": "NM_001105529.1",
"protein_id": "NP_001098999.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2132,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105529.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2132A>G",
"hgvs_p": "p.His711Arg",
"transcript": "NM_001400026.1",
"protein_id": "NP_001386955.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2132,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400026.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2132A>G",
"hgvs_p": "p.His711Arg",
"transcript": "ENST00000700470.1",
"protein_id": "ENSP00000515003.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2132,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700470.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2132A>G",
"hgvs_p": "p.His711Arg",
"transcript": "ENST00000905751.1",
"protein_id": "ENSP00000575810.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2132,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 8112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905751.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.1640A>G",
"hgvs_p": "p.His547Arg",
"transcript": "NM_001400027.1",
"protein_id": "NP_001386956.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 985,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 8151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400027.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.His733Arg",
"transcript": "XM_011513615.2",
"protein_id": "XP_011511917.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2198,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 8291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513615.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.His733Arg",
"transcript": "XM_011513616.3",
"protein_id": "XP_011511918.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2198,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 8291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513616.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2153A>G",
"hgvs_p": "p.His718Arg",
"transcript": "XM_047449508.1",
"protein_id": "XP_047305464.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449508.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.1706A>G",
"hgvs_p": "p.His569Arg",
"transcript": "XM_047449509.1",
"protein_id": "XP_047305465.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1706,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 7693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449509.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.His733Arg",
"transcript": "XM_047449510.1",
"protein_id": "XP_047305466.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 917,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449510.1"
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2151+17807A>G",
"hgvs_p": null,
"transcript": "XM_047449511.1",
"protein_id": "XP_047305467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449511.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.-131A>G",
"hgvs_p": null,
"transcript": "ENST00000506602.5",
"protein_id": "ENSP00000421164.1",
"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": 920,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506602.5"
}
],
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"dbsnp": "rs1464684851",
"frequency_reference_population": 0.000004799267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479927,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6937815546989441,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006095.2",
"gene_symbol": "ATP8A1",
"hgnc_id": 13531,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.His726Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}