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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: 15-75959507-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75959507&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75959507,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000394907.8",
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "NM_138573.4",
"protein_id": "NP_612640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": "ENST00000394907.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000394907.8",
"protein_id": "ENSP00000378367.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": "NM_138573.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*322+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000461391.5",
"protein_id": "ENSP00000431810.1",
"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": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*236+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000568073.5",
"protein_id": "ENSP00000456778.1",
"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": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000563910.5",
"protein_id": "ENSP00000455167.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*236+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000472094.5",
"protein_id": "ENSP00000432751.1",
"transcript_support_level": 2,
"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": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*237-367T>A",
"hgvs_p": null,
"transcript": "ENST00000498750.5",
"protein_id": "ENSP00000436832.1",
"transcript_support_level": 4,
"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": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*236+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000562114.5",
"protein_id": "ENSP00000454895.1",
"transcript_support_level": 2,
"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": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.252-367T>A",
"hgvs_p": null,
"transcript": "ENST00000563204.5",
"protein_id": "ENSP00000455314.1",
"transcript_support_level": 5,
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*323-367T>A",
"hgvs_p": null,
"transcript": "ENST00000565661.5",
"protein_id": "ENSP00000457838.1",
"transcript_support_level": 2,
"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": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.251+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000566417.5",
"protein_id": "ENSP00000457335.1",
"transcript_support_level": 3,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "n.*236+2321T>A",
"hgvs_p": null,
"transcript": "ENST00000567936.5",
"protein_id": "ENSP00000456029.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432178.1",
"protein_id": "XP_047288134.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 123,
"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": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432179.1",
"protein_id": "XP_047288135.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "NRG4",
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"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432180.1",
"protein_id": "XP_047288136.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432181.1",
"protein_id": "XP_047288137.1",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432182.1",
"protein_id": "XP_047288138.1",
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"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432183.1",
"protein_id": "XP_047288139.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432184.1",
"protein_id": "XP_047288140.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "NRG4",
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"hgvs_c": "c.251+2321T>A",
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"transcript": "XM_017021948.3",
"protein_id": "XP_016877437.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "NRG4",
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"hgvs_c": "c.251+2321T>A",
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"transcript": "XM_024449848.2",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432185.1",
"protein_id": "XP_047288141.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRG4",
"gene_hgnc_id": 29862,
"hgvs_c": "c.251+2321T>A",
"hgvs_p": null,
"transcript": "XM_047432186.1",
"protein_id": "XP_047288142.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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},
{
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},
{
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"intron_variant"
],
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}
],
"gene_symbol": "NRG4",
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"dbsnp": "rs2454472",
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"allele_count_reference_population": 9426,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0620295,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 9426,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 609,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.32,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000394907.8",
"gene_symbol": "NRG4",
"hgnc_id": 29862,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.251+2321T>A",
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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
}