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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: 2-43896916-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43896916&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43896916,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000260665.12",
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3826-208A>T",
"hgvs_p": null,
"transcript": "NM_133259.4",
"protein_id": "NP_573566.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1394,
"cds_start": -4,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "ENST00000260665.12",
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3826-208A>T",
"hgvs_p": null,
"transcript": "ENST00000260665.12",
"protein_id": "ENSP00000260665.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1394,
"cds_start": -4,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "NM_133259.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.1844A>T",
"hgvs_p": null,
"transcript": "ENST00000683096.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.5478A>T",
"hgvs_p": null,
"transcript": "ENST00000684454.1",
"protein_id": null,
"transcript_support_level": null,
"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": 10249,
"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": 39,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3934-208A>T",
"hgvs_p": null,
"transcript": "ENST00000683125.1",
"protein_id": "ENSP00000507939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1430,
"cds_start": -4,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5169,
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3856-208A>T",
"hgvs_p": null,
"transcript": "ENST00000683220.1",
"protein_id": "ENSP00000507151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1404,
"cds_start": -4,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5079,
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3844-208A>T",
"hgvs_p": null,
"transcript": "ENST00000682480.1",
"protein_id": "ENSP00000508344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4325,
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3829-208A>T",
"hgvs_p": null,
"transcript": "ENST00000683213.1",
"protein_id": "ENSP00000507751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5071,
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3823-208A>T",
"hgvs_p": null,
"transcript": "ENST00000682546.1",
"protein_id": "ENSP00000508188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5052,
"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3817-208A>T",
"hgvs_p": null,
"transcript": "ENST00000682779.1",
"protein_id": "ENSP00000507947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1391,
"cds_start": -4,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4757,
"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": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3781-208A>T",
"hgvs_p": null,
"transcript": "ENST00000682885.1",
"protein_id": "ENSP00000508036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": -4,
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"cds_length": 4140,
"cdna_start": null,
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"cdna_length": 4513,
"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": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3826-2287A>T",
"hgvs_p": null,
"transcript": "ENST00000682308.1",
"protein_id": "ENSP00000507056.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1369,
"cds_start": -4,
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"cds_length": 4110,
"cdna_start": null,
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"cdna_length": 5259,
"mane_select": null,
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"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": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3817-2287A>T",
"hgvs_p": null,
"transcript": "ENST00000683833.1",
"protein_id": "ENSP00000506852.1",
"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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"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": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3733-208A>T",
"hgvs_p": null,
"transcript": "ENST00000683623.1",
"protein_id": "ENSP00000507702.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.3574-2287A>T",
"hgvs_p": null,
"transcript": "ENST00000683590.1",
"protein_id": "ENSP00000506820.1",
"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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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.256-208A>T",
"hgvs_p": null,
"transcript": "ENST00000419884.6",
"protein_id": "ENSP00000414207.2",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.2869-208A>T",
"hgvs_p": null,
"transcript": "ENST00000463456.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"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": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.905-208A>T",
"hgvs_p": null,
"transcript": "ENST00000472420.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.257-261A>T",
"hgvs_p": null,
"transcript": "ENST00000483489.2",
"protein_id": null,
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},
{
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],
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"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
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"hgvs_c": "n.1378-208A>T",
"hgvs_p": null,
"transcript": "ENST00000681993.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
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"hgvs_c": "n.*3612-2287A>T",
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"transcript": "ENST00000682303.1",
"protein_id": "ENSP00000508325.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.1377-208A>T",
"hgvs_p": null,
"transcript": "ENST00000682434.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3735,
"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": 39,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.3826-208A>T",
"hgvs_p": null,
"transcript": "ENST00000682585.1",
"protein_id": "ENSP00000506885.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"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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}
],
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"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"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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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.135,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000260665.12",
"gene_symbol": "LRPPRC",
"hgnc_id": 15714,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3826-208A>T",
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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
}