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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: 15-73205533-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73205533&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 73205533,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001419531.1",
"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": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "NM_002499.4",
"protein_id": "NP_002490.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": null,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261908.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002499.4"
},
{
"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": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000261908.11",
"protein_id": "ENSP00000261908.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": null,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002499.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261908.11"
},
{
"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": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000558964.5",
"protein_id": "ENSP00000453200.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1450,
"cds_start": null,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558964.5"
},
{
"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": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000560262.5",
"protein_id": "ENSP00000453317.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": null,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560262.5"
},
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.319+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000560328.1",
"protein_id": "ENSP00000454024.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560328.1"
},
{
"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": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "NM_001419531.1",
"protein_id": "NP_001406460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": null,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001419531.1"
},
{
"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": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000881918.1",
"protein_id": "ENSP00000551977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1470,
"cds_start": null,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881918.1"
},
{
"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": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000339362.9",
"protein_id": "ENSP00000341198.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": null,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339362.9"
},
{
"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": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "NM_001172624.2",
"protein_id": "NP_001166095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1450,
"cds_start": null,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172624.2"
},
{
"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": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000881915.1",
"protein_id": "ENSP00000551974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": null,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881915.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000944648.1",
"protein_id": "ENSP00000614707.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 8,
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"gene_symbol": "NEO1",
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"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000881911.1",
"protein_id": "ENSP00000551970.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000881911.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
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"hgvs_c": "c.1291+27106T>C",
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"transcript": "ENST00000881913.1",
"protein_id": "ENSP00000551972.1",
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"cdna_start": null,
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},
{
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],
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"gene_symbol": "NEO1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000916989.1",
"protein_id": "ENSP00000587048.1",
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},
{
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],
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"exon_count": 27,
"intron_rank": 7,
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"gene_symbol": "NEO1",
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"hgvs_c": "c.1291+27106T>C",
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},
{
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"strand": true,
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],
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"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "NM_001172623.2",
"protein_id": "NP_001166094.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1291+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000916988.1",
"protein_id": "ENSP00000587047.1",
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},
{
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"strand": true,
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],
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"intron_rank": 7,
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"gene_symbol": "NEO1",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "NEO1",
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},
{
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"strand": true,
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],
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"intron_rank": 7,
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"gene_symbol": "NEO1",
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"hgvs_c": "c.1291+27106T>C",
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"transcript": "ENST00000881919.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000881919.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEO1",
"gene_hgnc_id": 7754,
"hgvs_c": "c.1015+27106T>C",
"hgvs_p": null,
"transcript": "ENST00000881920.1",
"protein_id": "ENSP00000551979.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000881920.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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{
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{
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],
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"gnomad_genomes_ac": 54616,
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"computational_score_selected": -1.0199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
"transcript": "NM_001419531.1",
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"effects": [
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"inheritance_mode": "",
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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
}