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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: 12-40363440-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=40363440&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 40363440,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198578.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.7067C>T",
"hgvs_p": "p.Thr2356Ile",
"transcript": "NM_198578.4",
"protein_id": "NP_940980.4",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2527,
"cds_start": 7067,
"cds_end": null,
"cds_length": 7584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298910.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198578.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.7067C>T",
"hgvs_p": "p.Thr2356Ile",
"transcript": "ENST00000298910.12",
"protein_id": "ENSP00000298910.7",
"transcript_support_level": 1,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2527,
"cds_start": 7067,
"cds_end": null,
"cds_length": 7584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298910.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*3740C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430804.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*3740C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430804.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.7043C>T",
"hgvs_p": "p.Thr2348Ile",
"transcript": "ENST00000950031.1",
"protein_id": "ENSP00000620090.1",
"transcript_support_level": null,
"aa_start": 2348,
"aa_end": null,
"aa_length": 2519,
"cds_start": 7043,
"cds_end": null,
"cds_length": 7560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950031.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.6812C>T",
"hgvs_p": "p.Thr2271Ile",
"transcript": "ENST00000680790.1",
"protein_id": "ENSP00000505335.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2442,
"cds_start": 6812,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680790.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.2750C>T",
"hgvs_p": "p.Thr917Ile",
"transcript": "ENST00000681696.1",
"protein_id": "ENSP00000505871.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2750,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681696.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Thr288Ile",
"transcript": "ENST00000636518.1",
"protein_id": "ENSP00000490200.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 453,
"cds_start": 863,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636518.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.7067C>T",
"hgvs_p": "p.Thr2356Ile",
"transcript": "XM_005268629.5",
"protein_id": "XP_005268686.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2521,
"cds_start": 7067,
"cds_end": null,
"cds_length": 7566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268629.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.7067C>T",
"hgvs_p": "p.Thr2356Ile",
"transcript": "XM_011537877.4",
"protein_id": "XP_011536179.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2503,
"cds_start": 7067,
"cds_end": null,
"cds_length": 7512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537877.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.7067C>T",
"hgvs_p": "p.Thr2356Ile",
"transcript": "XM_047428277.1",
"protein_id": "XP_047284233.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7067,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428277.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.5864C>T",
"hgvs_p": "p.Thr1955Ile",
"transcript": "XM_024448833.2",
"protein_id": "XP_024304601.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2126,
"cds_start": 5864,
"cds_end": null,
"cds_length": 6381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448833.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "c.3983C>T",
"hgvs_p": "p.Thr1328Ile",
"transcript": "XM_017018787.2",
"protein_id": "XP_016874276.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1499,
"cds_start": 3983,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018787.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.3748C>T",
"hgvs_p": null,
"transcript": "ENST00000479187.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479187.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*5976C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*2327C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679532.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*678C>T",
"hgvs_p": null,
"transcript": "ENST00000679683.1",
"protein_id": "ENSP00000506105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*2290C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*1624C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*2102C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.*2043C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRK2",
"gene_hgnc_id": 18618,
"hgvs_c": "n.3051C>T",
"hgvs_p": null,
"transcript": "ENST00000681136.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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{
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1 O:1",
"phenotype_combined": "Autosomal dominant Parkinson disease 8|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}