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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: 12-15573963-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15573963&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15573963,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000281171.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.2829+4465A>T",
"hgvs_p": null,
"transcript": "NM_030667.3",
"protein_id": "NP_109592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": "ENST00000281171.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.2829+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000281171.9",
"protein_id": "ENSP00000281171.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": "NM_030667.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.2745+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000348962.7",
"protein_id": "ENSP00000343434.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.396+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000442921.7",
"protein_id": "ENSP00000404188.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.312+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000542557.5",
"protein_id": "ENSP00000437571.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.*3365A>T",
"hgvs_p": null,
"transcript": "XM_017019725.3",
"protein_id": "XP_016875214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": -4,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.2829+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000674316.1",
"protein_id": "ENSP00000501352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": -4,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.2745+4465A>T",
"hgvs_p": null,
"transcript": "NM_002848.4",
"protein_id": "NP_002839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.2385+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000674188.1",
"protein_id": "ENSP00000501325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.396+4465A>T",
"hgvs_p": null,
"transcript": "NM_030669.3",
"protein_id": "NP_109594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.396+4465A>T",
"hgvs_p": null,
"transcript": "NM_030671.3",
"protein_id": "NP_109596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 7,
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"gene_symbol": "PTPRO",
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"hgvs_c": "c.396+4465A>T",
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"transcript": "ENST00000445537.6",
"protein_id": "ENSP00000393449.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 7,
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"gene_symbol": "PTPRO",
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"hgvs_c": "c.396+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000674388.1",
"protein_id": "ENSP00000501494.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "c.312+4465A>T",
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"transcript": "NM_030668.3",
"protein_id": "NP_109593.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "PTPRO",
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"hgvs_c": "c.312+4465A>T",
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"transcript": "NM_030670.3",
"protein_id": "NP_109595.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
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"gene_symbol": "PTPRO",
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"hgvs_c": "c.312+4465A>T",
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"transcript": "ENST00000544244.5",
"protein_id": "ENSP00000439234.1",
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},
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"strand": true,
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],
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"intron_rank": 5,
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"gene_symbol": "PTPRO",
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"hgvs_c": "n.*146+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000535311.5",
"protein_id": "ENSP00000445621.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "n.362+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000538907.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
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"hgvs_c": "n.360+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000544706.2",
"protein_id": "ENSP00000501413.1",
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},
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],
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"transcript": "ENST00000674220.1",
"protein_id": "ENSP00000501384.1",
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},
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],
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},
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "n.2334+4465A>T",
"hgvs_p": null,
"transcript": "ENST00000674286.1",
"protein_id": "ENSP00000501361.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PTPRO",
"gene_hgnc_id": 9678,
"hgvs_c": "n.647+3828A>T",
"hgvs_p": null,
"transcript": "ENST00000674352.1",
"protein_id": "ENSP00000501378.1",
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"aa_start": null,
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},
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}