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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: 16-84398569-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84398569&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84398569,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286527.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "NM_014861.4",
"protein_id": "NP_055676.3",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 946,
"cds_start": 170,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262429.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014861.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000262429.9",
"protein_id": "ENSP00000262429.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 946,
"cds_start": 170,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014861.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262429.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000416219.7",
"protein_id": "ENSP00000397925.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 975,
"cds_start": 170,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416219.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "NM_001286527.3",
"protein_id": "NP_001273456.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 975,
"cds_start": 170,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286527.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861763.1",
"protein_id": "ENSP00000531822.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 971,
"cds_start": 170,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861763.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861768.1",
"protein_id": "ENSP00000531827.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 971,
"cds_start": 170,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861768.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861766.1",
"protein_id": "ENSP00000531825.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 944,
"cds_start": 170,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861766.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000957789.1",
"protein_id": "ENSP00000627848.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 944,
"cds_start": 170,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957789.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861764.1",
"protein_id": "ENSP00000531823.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 943,
"cds_start": 170,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861764.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861771.1",
"protein_id": "ENSP00000531830.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 942,
"cds_start": 170,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861771.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000957791.1",
"protein_id": "ENSP00000627850.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 941,
"cds_start": 170,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957791.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861762.1",
"protein_id": "ENSP00000531821.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 912,
"cds_start": 170,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861762.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861769.1",
"protein_id": "ENSP00000531828.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 907,
"cds_start": 170,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861769.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861770.1",
"protein_id": "ENSP00000531829.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 889,
"cds_start": 170,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861770.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000861765.1",
"protein_id": "ENSP00000531824.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 873,
"cds_start": 170,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861765.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Ala34Val",
"transcript": "XM_011523486.3",
"protein_id": "XP_011521788.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 952,
"cds_start": 101,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523486.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Ala34Val",
"transcript": "XM_047434994.1",
"protein_id": "XP_047290950.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 923,
"cds_start": 101,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434994.1"
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.144+26C>T",
"hgvs_p": null,
"transcript": "ENST00000861767.1",
"protein_id": "ENSP00000531826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": null,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861767.1"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"hgvs_c": "c.100-6559C>T",
"hgvs_p": null,
"transcript": "ENST00000957790.1",
"protein_id": "ENSP00000627849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957790.1"
}
],
"gene_symbol": "ATP2C2",
"gene_hgnc_id": 29103,
"dbsnp": "rs780617194",
"frequency_reference_population": 0.000058192312,
"hom_count_reference_population": 0,
"allele_count_reference_population": 85,
"gnomad_exomes_af": 0.0000581923,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 85,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8609827160835266,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.512,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3028,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.035,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286527.3",
"gene_symbol": "ATP2C2",
"hgnc_id": 29103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val"
}
],
"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
}