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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: 4-42455316-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=42455316&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 42455316,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006095.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2798C>G",
"hgvs_p": "p.Ala933Gly",
"transcript": "NM_006095.2",
"protein_id": "NP_006086.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 8270,
"mane_select": "ENST00000381668.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006095.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2798C>G",
"hgvs_p": "p.Ala933Gly",
"transcript": "ENST00000381668.9",
"protein_id": "ENSP00000371084.5",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 8270,
"mane_select": "NM_006095.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381668.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2753C>G",
"hgvs_p": "p.Ala918Gly",
"transcript": "ENST00000264449.14",
"protein_id": "ENSP00000264449.10",
"transcript_support_level": 1,
"aa_start": 918,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2973,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*450C>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*450C>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": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2798C>G",
"hgvs_p": "p.Ala933Gly",
"transcript": "NM_001400024.1",
"protein_id": "NP_001386953.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 8270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400024.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2798C>G",
"hgvs_p": "p.Ala933Gly",
"transcript": "ENST00000905753.1",
"protein_id": "ENSP00000575812.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2798,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905753.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2774C>G",
"hgvs_p": "p.Ala925Gly",
"transcript": "NM_001400025.1",
"protein_id": "NP_001386954.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400025.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2774C>G",
"hgvs_p": "p.Ala925Gly",
"transcript": "ENST00000905752.1",
"protein_id": "ENSP00000575811.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905752.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2753C>G",
"hgvs_p": "p.Ala918Gly",
"transcript": "NM_001105529.1",
"protein_id": "NP_001098999.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105529.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2753C>G",
"hgvs_p": "p.Ala918Gly",
"transcript": "NM_001400026.1",
"protein_id": "NP_001386955.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400026.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2753C>G",
"hgvs_p": "p.Ala918Gly",
"transcript": "ENST00000700470.1",
"protein_id": "ENSP00000515003.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700470.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"transcript": "ENST00000905751.1",
"protein_id": "ENSP00000575810.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 8112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905751.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2261C>G",
"hgvs_p": "p.Ala754Gly",
"transcript": "NM_001400027.1",
"protein_id": "NP_001386956.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 985,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 8151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400027.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2819C>G",
"hgvs_p": "p.Ala940Gly",
"transcript": "XM_011513615.2",
"protein_id": "XP_011511917.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2819,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 8291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513615.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2819C>G",
"hgvs_p": "p.Ala940Gly",
"transcript": "XM_011513616.3",
"protein_id": "XP_011511918.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2819,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 8291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513616.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2774C>G",
"hgvs_p": "p.Ala925Gly",
"transcript": "XM_047449508.1",
"protein_id": "XP_047305464.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449508.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ala776Gly",
"transcript": "XM_047449509.1",
"protein_id": "XP_047305465.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 7693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*79C>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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*79C>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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.*79C>G",
"hgvs_p": null,
"transcript": "XM_047449510.1",
"protein_id": "XP_047305466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": null,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449510.1"
}
],
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"dbsnp": "rs771647511",
"frequency_reference_population": 0.0000030986,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000027369,
"gnomad_genomes_af": 0.00000657367,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23396402597427368,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.439,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1604,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.959,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006095.2",
"gene_symbol": "ATP8A1",
"hgnc_id": 13531,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2798C>G",
"hgvs_p": "p.Ala933Gly"
}
],
"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
}