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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: 12-42460657-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42460657&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42460657,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345127.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "NM_153026.3",
"protein_id": "NP_694571.2",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000345127.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000345127.9",
"protein_id": "ENSP00000345064.3",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_153026.3",
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257225",
"gene_hgnc_id": 58444,
"hgvs_c": "n.1292C>T",
"hgvs_p": null,
"transcript": "ENST00000547824.1",
"protein_id": null,
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "NM_001144881.2",
"protein_id": "NP_001138353.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "NM_001144882.2",
"protein_id": "NP_001138354.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "NM_001144883.2",
"protein_id": "NP_001138355.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000445766.7",
"protein_id": "ENSP00000398947.2",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000455697.6",
"protein_id": "ENSP00000401060.1",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000548696.6",
"protein_id": "ENSP00000448359.1",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000552240.6",
"protein_id": "ENSP00000449819.1",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000639566.1",
"protein_id": "ENSP00000492332.1",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PRICKLE1",
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"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000639589.1",
"protein_id": "ENSP00000491051.1",
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
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"cdna_start": 1867,
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"cdna_length": 5761,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000639958.1",
"protein_id": "ENSP00000492644.1",
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"cds_start": 1648,
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"cdna_start": 1975,
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"cdna_length": 3803,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "PRICKLE1",
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"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000640055.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "ENST00000640132.1",
"protein_id": "ENSP00000491228.1",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
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"cdna_start": 1993,
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"cdna_length": 4278,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "XM_011537946.2",
"protein_id": "XP_011536248.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "XM_011537947.3",
"protein_id": "XP_011536249.1",
"transcript_support_level": null,
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"cdna_start": 1975,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "XM_017018838.2",
"protein_id": "XP_016874327.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
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"cds_start": 1648,
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"cdna_start": 1837,
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"feature": null
},
{
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"consequences": [
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"intron_rank": null,
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"gene_symbol": "PRICKLE1",
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"transcript": "XM_017018839.2",
"protein_id": "XP_016874328.1",
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},
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"protein_coding": true,
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],
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
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"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "XM_017018840.2",
"protein_id": "XP_016874329.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "PRICKLE1",
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"cds_start": 1648,
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"cdna_start": 4609,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"transcript": "XM_047428328.1",
"protein_id": "XP_047284284.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 831,
"cds_start": 1648,
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"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
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"verdict": "Likely_benign",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epilepsy, progressive myoclonic, 1B",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}