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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: 1-226883771-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226883771&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226883771,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366783.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_000447.3",
"protein_id": "NP_000438.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "ENST00000366783.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000366783.8",
"protein_id": "ENSP00000355747.3",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "NM_000447.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000366782.6",
"protein_id": "ENSP00000355746.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.208G>A",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"transcript_support_level": 2,
"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": 9497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000676945.1",
"protein_id": "ENSP00000504433.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 527,
"cds_start": 208,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000677599.1",
"protein_id": "ENSP00000503673.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 471,
"cds_start": 208,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_001437537.1",
"protein_id": "NP_001424466.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000524196.6",
"protein_id": "ENSP00000429036.2",
"transcript_support_level": 4,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000626989.3",
"protein_id": "ENSP00000486498.2",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000677414.1",
"protein_id": "ENSP00000503116.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000679088.1",
"protein_id": "ENSP00000504727.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_012486.3",
"protein_id": "NP_036618.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 447,
"cds_start": 208,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000422240.6",
"protein_id": "ENSP00000403737.2",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 447,
"cds_start": 208,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000678320.1",
"protein_id": "ENSP00000503680.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 415,
"cds_start": 208,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000495488.5",
"protein_id": "ENSP00000429682.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 128,
"cds_start": 208,
"cds_end": null,
"cds_length": 387,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "XM_017001835.2",
"protein_id": "XP_016857324.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "XM_047425596.1",
"protein_id": "XP_047281552.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 448,
"cds_start": 208,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "XM_017001836.2",
"protein_id": "XP_016857325.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 447,
"cds_start": 208,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "XM_047425597.1",
"protein_id": "XP_047281553.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 447,
"cds_start": 208,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "XM_047425601.1",
"protein_id": "XP_047281557.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 447,
"cds_start": 208,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.*38G>A",
"hgvs_p": null,
"transcript": "ENST00000676467.1",
"protein_id": "ENSP00000504294.1",
"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": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.208G>A",
"hgvs_p": null,
"transcript": "ENST00000676747.1",
"protein_id": "ENSP00000503244.1",
"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": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.208G>A",
"hgvs_p": null,
"transcript": "ENST00000676840.1",
"protein_id": "ENSP00000504318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"dbsnp": "rs139972151",
"frequency_reference_population": 0.00004708588,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000458318,
"gnomad_genomes_af": 0.0000591304,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40273645520210266,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.456,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1244,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.071,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000366783.8",
"gene_symbol": "PSEN2",
"hgnc_id": 9509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366779.6",
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Alzheimer disease 4,PSEN2-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Alzheimer disease 4|PSEN2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}