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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: 15-43449558-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43449558&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43449558,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001141980.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "NM_001141980.3",
"protein_id": "NP_001135452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": null,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382044.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141980.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000382044.9",
"protein_id": "ENSP00000371475.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": null,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001141980.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382044.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000450115.6",
"protein_id": "ENSP00000393497.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1975,
"cds_start": null,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450115.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2702-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000263801.7",
"protein_id": "ENSP00000263801.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": null,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263801.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "NM_001141979.3",
"protein_id": "NP_001135451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1975,
"cds_start": null,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141979.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000931502.1",
"protein_id": "ENSP00000601561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1975,
"cds_start": null,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2702-2073G>A",
"hgvs_p": null,
"transcript": "NM_005657.4",
"protein_id": "NP_005648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": null,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005657.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2651-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000966912.1",
"protein_id": "ENSP00000636971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1955,
"cds_start": null,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000966911.1",
"protein_id": "ENSP00000636970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1946,
"cds_start": null,
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"cds_length": 5841,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966911.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "NM_001411050.1",
"protein_id": "NP_001397979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1927,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411050.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000382039.7",
"protein_id": "ENSP00000371470.3",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "TP53BP1",
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"hgvs_c": "c.2558-2073G>A",
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"transcript": "ENST00000931503.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 12,
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"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
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"transcript": "ENST00000858968.1",
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},
{
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],
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"gene_symbol": "TP53BP1",
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"feature": "ENST00000931501.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 12,
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"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2968G>A",
"hgvs_p": null,
"transcript": "ENST00000413546.1",
"protein_id": "ENSP00000388028.1",
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},
{
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],
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"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.-313-2073G>A",
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"feature": "NM_001355001.2"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 13,
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"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "XM_047432994.1",
"protein_id": "XP_047288950.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "XM_047432995.1",
"protein_id": "XP_047288951.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
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"exon_count": 29,
"intron_rank": 14,
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"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
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},
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"strand": false,
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],
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"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
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},
{
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],
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"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.2717-2073G>A",
"hgvs_p": null,
"transcript": "XM_047432999.1",
"protein_id": "XP_047288955.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047432999.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "n.440-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000411772.5",
"protein_id": "ENSP00000413010.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411772.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}