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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: 2-240594824-AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240594824&ref=AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240594824,
"ref": "AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_023083.4",
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+136_998-148delCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
"hgvs_p": null,
"transcript": "NM_023083.4",
"protein_id": "NP_075571.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": null,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000391984.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023083.4"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000391984.7",
"protein_id": "ENSP00000375844.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": null,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023083.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391984.7"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000354082.8",
"protein_id": "ENSP00000270362.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354082.8"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.142-3063_142-3032delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000352879.8",
"protein_id": "ENSP00000289381.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352879.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.*161+116_*161+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000270361.15",
"protein_id": "ENSP00000270361.11",
"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": "ENST00000270361.15"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000357048.8",
"protein_id": "ENSP00000349556.4",
"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": "ENST00000357048.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000391983.7",
"protein_id": "ENSP00000375843.3",
"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": "ENST00000391983.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000416591.5",
"protein_id": "ENSP00000400144.1",
"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": "ENST00000416591.5"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.1012+116_1012+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000953349.1",
"protein_id": "ENSP00000623408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953349.1"
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000857395.1",
"protein_id": "ENSP00000527454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": null,
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"cds_length": 2019,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857395.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000938609.1",
"protein_id": "ENSP00000608668.1",
"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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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.994+116_994+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000953347.1",
"protein_id": "ENSP00000623406.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 671,
"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
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"protein_id": "ENSP00000608672.1",
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},
{
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"strand": true,
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],
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"intron_rank": 6,
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"gene_symbol": "CAPN10",
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"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000404753.7",
"protein_id": "ENSP00000384422.3",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000404753.7"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.931+116_931+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000953348.1",
"protein_id": "ENSP00000623407.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.916+116_916+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000938610.1",
"protein_id": "ENSP00000608669.1",
"transcript_support_level": null,
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"feature": "ENST00000938610.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
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"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000938611.1",
"protein_id": "ENSP00000608670.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.835+116_835+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000857397.1",
"protein_id": "ENSP00000527456.1",
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},
{
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"strand": true,
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],
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.942+116_942+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000938612.1",
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},
{
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],
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"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.689-199_689-168delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000938614.1",
"protein_id": "ENSP00000608673.1",
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"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000938614.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.997+116_997+147delGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
"hgvs_p": null,
"transcript": "ENST00000857396.1",
"protein_id": "ENSP00000527455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857396.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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{
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{
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.158,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_023083.4",
"gene_symbol": "CAPN10",
"hgnc_id": 1477,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}