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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: 12-40321123-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=40321123&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 40321123,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000298910.12",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5105T>A",
"hgvs_p": "p.Met1702Lys",
"transcript": "NM_198578.4",
"protein_id": "NP_940980.4",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 2527,
"cds_start": 5105,
"cds_end": null,
"cds_length": 7584,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 9239,
"mane_select": "ENST00000298910.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5105T>A",
"hgvs_p": "p.Met1702Lys",
"transcript": "ENST00000298910.12",
"protein_id": "ENSP00000298910.7",
"transcript_support_level": 1,
"aa_start": 1702,
"aa_end": null,
"aa_length": 2527,
"cds_start": 5105,
"cds_end": null,
"cds_length": 7584,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 9239,
"mane_select": "NM_198578.4",
"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": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*1778T>A",
"hgvs_p": null,
"transcript": "ENST00000430804.5",
"protein_id": "ENSP00000410821.1",
"transcript_support_level": 1,
"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": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*1778T>A",
"hgvs_p": null,
"transcript": "ENST00000430804.5",
"protein_id": "ENSP00000410821.1",
"transcript_support_level": 1,
"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": 6400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.4850T>A",
"hgvs_p": "p.Met1617Lys",
"transcript": "ENST00000680790.1",
"protein_id": "ENSP00000505335.1",
"transcript_support_level": null,
"aa_start": 1617,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4850,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.788T>A",
"hgvs_p": "p.Met263Lys",
"transcript": "ENST00000681696.1",
"protein_id": "ENSP00000505871.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1052,
"cds_start": 788,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5105T>A",
"hgvs_p": "p.Met1702Lys",
"transcript": "XM_005268629.5",
"protein_id": "XP_005268686.1",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 2521,
"cds_start": 5105,
"cds_end": null,
"cds_length": 7566,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 9221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5105T>A",
"hgvs_p": "p.Met1702Lys",
"transcript": "XM_011537877.4",
"protein_id": "XP_011536179.1",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 2503,
"cds_start": 5105,
"cds_end": null,
"cds_length": 7512,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 9167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5105T>A",
"hgvs_p": "p.Met1702Lys",
"transcript": "XM_047428277.1",
"protein_id": "XP_047284233.1",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 2490,
"cds_start": 5105,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 10778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5105T>A",
"hgvs_p": "p.Met1702Lys",
"transcript": "XM_047428278.1",
"protein_id": "XP_047284234.1",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 2371,
"cds_start": 5105,
"cds_end": null,
"cds_length": 7116,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 10600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.3902T>A",
"hgvs_p": "p.Met1301Lys",
"transcript": "XM_024448833.2",
"protein_id": "XP_024304601.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 2126,
"cds_start": 3902,
"cds_end": null,
"cds_length": 6381,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 8403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.2021T>A",
"hgvs_p": "p.Met674Lys",
"transcript": "XM_017018787.2",
"protein_id": "XP_016874276.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2021,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 6169,
"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": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.1786T>A",
"hgvs_p": null,
"transcript": "ENST00000479187.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 8306,
"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": 36,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*4014T>A",
"hgvs_p": null,
"transcript": "ENST00000679360.1",
"protein_id": "ENSP00000505368.1",
"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,
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"cdna_length": 7718,
"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": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*365T>A",
"hgvs_p": null,
"transcript": "ENST00000679532.1",
"protein_id": "ENSP00000506435.1",
"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": 4852,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*328T>A",
"hgvs_p": null,
"transcript": "ENST00000680018.1",
"protein_id": "ENSP00000505347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4523,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.749T>A",
"hgvs_p": null,
"transcript": "ENST00000680422.1",
"protein_id": "ENSP00000505304.1",
"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": 8598,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*140T>A",
"hgvs_p": null,
"transcript": "ENST00000680425.1",
"protein_id": "ENSP00000506459.1",
"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": 3968,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*81T>A",
"hgvs_p": null,
"transcript": "ENST00000680453.1",
"protein_id": "ENSP00000505566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.1089T>A",
"hgvs_p": null,
"transcript": "ENST00000681136.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4081,
"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": 35,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.5240T>A",
"hgvs_p": null,
"transcript": "XR_007063041.1",
"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": 11176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*4014T>A",
"hgvs_p": null,
"transcript": "ENST00000679360.1",
"protein_id": "ENSP00000505368.1",
"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": 7718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*365T>A",
"hgvs_p": null,
"transcript": "ENST00000679532.1",
"protein_id": "ENSP00000506435.1",
"transcript_support_level": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}