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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: 21-25975071-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25975071&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 25975071,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000346798.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "NM_000484.4",
"protein_id": "NP_000475.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 770,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": "ENST00000346798.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "ENST00000346798.8",
"protein_id": "ENSP00000284981.4",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 770,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": "NM_000484.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "ENST00000357903.7",
"protein_id": "ENSP00000350578.3",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 751,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1289G>T",
"hgvs_p": "p.Arg430Leu",
"transcript": "ENST00000439274.6",
"protein_id": "ENSP00000398879.2",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 714,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1232G>T",
"hgvs_p": "p.Arg411Leu",
"transcript": "ENST00000348990.9",
"protein_id": "ENSP00000345463.5",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 695,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Arg355Leu",
"transcript": "ENST00000354192.7",
"protein_id": "ENSP00000346129.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 639,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000448850.5",
"protein_id": "ENSP00000396923.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 484,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "NM_001204301.2",
"protein_id": "NP_001191230.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 752,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "ENST00000358918.7",
"protein_id": "ENSP00000351796.3",
"transcript_support_level": 5,
"aa_start": 486,
"aa_end": null,
"aa_length": 752,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "NM_201413.3",
"protein_id": "NP_958816.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 751,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Arg462Leu",
"transcript": "NM_001136016.3",
"protein_id": "NP_001129488.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 746,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Arg462Leu",
"transcript": "ENST00000440126.7",
"protein_id": "ENSP00000387483.2",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 746,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "NM_001204302.2",
"protein_id": "NP_001191231.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 733,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1289G>T",
"hgvs_p": "p.Arg430Leu",
"transcript": "NM_001136130.3",
"protein_id": "NP_001129602.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 714,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1289G>T",
"hgvs_p": "p.Arg430Leu",
"transcript": "NM_001385253.1",
"protein_id": "NP_001372182.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 714,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1232G>T",
"hgvs_p": "p.Arg411Leu",
"transcript": "NM_201414.3",
"protein_id": "NP_958817.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 695,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1232G>T",
"hgvs_p": "p.Arg411Leu",
"transcript": "NM_001204303.2",
"protein_id": "NP_001191232.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 677,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "NM_001136131.3",
"protein_id": "NP_001129603.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 660,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "ENST00000359726.7",
"protein_id": "ENSP00000352760.4",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 660,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Arg355Leu",
"transcript": "NM_001136129.3",
"protein_id": "NP_001129601.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 639,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.1424G>T",
"hgvs_p": null,
"transcript": "ENST00000707132.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.*119G>T",
"hgvs_p": null,
"transcript": "ENST00000415997.1",
"protein_id": "ENSP00000406539.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"dbsnp": "rs200268317",
"frequency_reference_population": 0.0000027363562,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273636,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7766004800796509,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7360000014305115,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.83,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.996487649601135,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000346798.8",
"gene_symbol": "APP",
"hgnc_id": 620,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}