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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: 16-84459279-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84459279&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ATP2C2",
"hgnc_id": 29103,
"hgvs_c": "c.2226C>T",
"hgvs_p": "p.Ser742Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001286527.3",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ATP2C2-AS1",
"hgnc_id": 53167,
"hgvs_c": "n.2978G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000565700.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000305404",
"hgnc_id": null,
"hgvs_c": "n.-203G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000810789.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 1623,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 946,
"aa_ref": "S",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_014861.4",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2226C>T",
"hgvs_p": "p.Ser742Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262429.9",
"protein_coding": true,
"protein_id": "NP_055676.3",
"strand": true,
"transcript": "NM_014861.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 946,
"aa_ref": "S",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000262429.9",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2226C>T",
"hgvs_p": "p.Ser742Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014861.4",
"protein_coding": true,
"protein_id": "ENSP00000262429.4",
"strand": true,
"transcript": "ENST00000262429.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "S",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000416219.7",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2226C>T",
"hgvs_p": "p.Ser742Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397925.2",
"strand": true,
"transcript": "ENST00000416219.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000565700.1",
"gene_hgnc_id": 53167,
"gene_symbol": "ATP2C2-AS1",
"hgvs_c": "n.2978G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000565700.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "S",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001286527.3",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2226C>T",
"hgvs_p": "p.Ser742Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273456.2",
"strand": true,
"transcript": "NM_001286527.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 971,
"aa_ref": "S",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2301,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000861763.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Ser767Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531822.1",
"strand": true,
"transcript": "ENST00000861763.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 971,
"aa_ref": "S",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2301,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000861768.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Ser767Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531827.1",
"strand": true,
"transcript": "ENST00000861768.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2244,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000861767.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2244C>T",
"hgvs_p": "p.Ser748Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531826.1",
"strand": true,
"transcript": "ENST00000861767.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 944,
"aa_ref": "S",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2220,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000861766.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2220C>T",
"hgvs_p": "p.Ser740Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531825.1",
"strand": true,
"transcript": "ENST00000861766.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 944,
"aa_ref": "S",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2220,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000957789.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2220C>T",
"hgvs_p": "p.Ser740Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627848.1",
"strand": true,
"transcript": "ENST00000957789.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 943,
"aa_ref": "S",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2217,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000861764.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Ser739Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531823.1",
"strand": true,
"transcript": "ENST00000861764.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 942,
"aa_ref": "S",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2214,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000861771.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2214C>T",
"hgvs_p": "p.Ser738Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531830.1",
"strand": true,
"transcript": "ENST00000861771.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 941,
"aa_ref": "S",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 2203,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2124,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000957791.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2124C>T",
"hgvs_p": "p.Ser708Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627850.1",
"strand": true,
"transcript": "ENST00000957791.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 912,
"aa_ref": "S",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2124,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861762.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2124C>T",
"hgvs_p": "p.Ser708Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531821.1",
"strand": true,
"transcript": "ENST00000861762.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 909,
"aa_ref": "S",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2115,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000957790.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2115C>T",
"hgvs_p": "p.Ser705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627849.1",
"strand": true,
"transcript": "ENST00000957790.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 889,
"aa_ref": "S",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2055,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861770.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2055C>T",
"hgvs_p": "p.Ser685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531829.1",
"strand": true,
"transcript": "ENST00000861770.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2007,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000861765.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Ser669Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531824.1",
"strand": true,
"transcript": "ENST00000861765.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001291454.2",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Ser591Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278383.1",
"strand": true,
"transcript": "NM_001291454.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2157,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011523486.3",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.2157C>T",
"hgvs_p": "p.Ser719Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521788.1",
"strand": true,
"transcript": "XM_011523486.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "S",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3472,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2157,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
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