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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: 1-226881932-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226881932&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226881932,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000366783.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "NM_000447.3",
"protein_id": "NP_000438.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "ENST00000366783.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000366783.8",
"protein_id": "ENSP00000355747.3",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "NM_000447.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000366782.6",
"protein_id": "ENSP00000355746.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 624,
"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": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.25A>G",
"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": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000676945.1",
"protein_id": "ENSP00000504433.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 527,
"cds_start": 25,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000677599.1",
"protein_id": "ENSP00000503673.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 471,
"cds_start": 25,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "NM_001437537.1",
"protein_id": "NP_001424466.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000524196.6",
"protein_id": "ENSP00000429036.2",
"transcript_support_level": 4,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000626989.3",
"protein_id": "ENSP00000486498.2",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000677414.1",
"protein_id": "ENSP00000503116.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000679088.1",
"protein_id": "ENSP00000504727.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "NM_012486.3",
"protein_id": "NP_036618.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 447,
"cds_start": 25,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000422240.6",
"protein_id": "ENSP00000403737.2",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 447,
"cds_start": 25,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000678320.1",
"protein_id": "ENSP00000503680.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 415,
"cds_start": 25,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "ENST00000495488.5",
"protein_id": "ENSP00000429682.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 128,
"cds_start": 25,
"cds_end": null,
"cds_length": 387,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "XM_017001835.2",
"protein_id": "XP_016857324.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "XM_047425596.1",
"protein_id": "XP_047281552.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 448,
"cds_start": 25,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "XM_017001836.2",
"protein_id": "XP_016857325.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 447,
"cds_start": 25,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "XM_047425597.1",
"protein_id": "XP_047281553.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 447,
"cds_start": 25,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"transcript": "XM_047425601.1",
"protein_id": "XP_047281557.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 447,
"cds_start": 25,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 2439,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.25A>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.25A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN2",
"gene_hgnc_id": 9509,
"hgvs_c": "n.25A>G",
"hgvs_p": null,
"transcript": "ENST00000676840.1",
"protein_id": "ENSP00000504318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
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"message": null
}