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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: 2-241314580-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241314580&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241314580,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_005336.6",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+990G>A",
"hgvs_p": null,
"transcript": "NM_005336.6",
"protein_id": "NP_005327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310931.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005336.6"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+990G>A",
"hgvs_p": null,
"transcript": "ENST00000310931.10",
"protein_id": "ENSP00000312042.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005336.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310931.10"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+522G>A",
"hgvs_p": null,
"transcript": "ENST00000875612.1",
"protein_id": "ENSP00000545671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875612.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+522G>A",
"hgvs_p": null,
"transcript": "ENST00000944585.1",
"protein_id": "ENSP00000614644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1269,
"cds_start": null,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944585.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+522G>A",
"hgvs_p": null,
"transcript": "NM_001320965.3",
"protein_id": "NP_001307894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320965.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+522G>A",
"hgvs_p": null,
"transcript": "ENST00000391976.6",
"protein_id": "ENSP00000375837.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391976.6"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-181+522G>A",
"hgvs_p": null,
"transcript": "ENST00000875594.1",
"protein_id": "ENSP00000545653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875594.1"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-182+990G>A",
"hgvs_p": null,
"transcript": "ENST00000875597.1",
"protein_id": "ENSP00000545656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875597.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-80+990G>A",
"hgvs_p": null,
"transcript": "ENST00000875599.1",
"protein_id": "ENSP00000545658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875599.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-103+967G>A",
"hgvs_p": null,
"transcript": "ENST00000875600.1",
"protein_id": "ENSP00000545659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
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"cds_length": 3807,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875600.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-15+522G>A",
"hgvs_p": null,
"transcript": "ENST00000875609.1",
"protein_id": "ENSP00000545668.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875609.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 1,
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"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-80+522G>A",
"hgvs_p": null,
"transcript": "ENST00000875610.1",
"protein_id": "ENSP00000545669.1",
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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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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875610.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
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"hgvs_c": "c.-182+522G>A",
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"transcript": "ENST00000875611.1",
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"cdna_start": null,
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"feature": "ENST00000875611.1"
},
{
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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": 30,
"intron_rank": 1,
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"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-350+522G>A",
"hgvs_p": null,
"transcript": "ENST00000875613.1",
"protein_id": "ENSP00000545672.1",
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"feature": "ENST00000875613.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-235+522G>A",
"hgvs_p": null,
"transcript": "ENST00000875614.1",
"protein_id": "ENSP00000545673.1",
"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_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875614.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-341+990G>A",
"hgvs_p": null,
"transcript": "ENST00000918685.1",
"protein_id": "ENSP00000588744.1",
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"biotype": "protein_coding",
"feature": "ENST00000918685.1"
},
{
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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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-307+990G>A",
"hgvs_p": null,
"transcript": "ENST00000918686.1",
"protein_id": "ENSP00000588745.1",
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"biotype": "protein_coding",
"feature": "ENST00000918686.1"
},
{
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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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-255+990G>A",
"hgvs_p": null,
"transcript": "ENST00000918687.1",
"protein_id": "ENSP00000588746.1",
"transcript_support_level": null,
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"cdna_start": null,
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"feature": "ENST00000918687.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HDLBP",
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"hgvs_c": "c.-15+990G>A",
"hgvs_p": null,
"transcript": "ENST00000918688.1",
"protein_id": "ENSP00000588747.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HDLBP",
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"hgvs_c": "c.-255+522G>A",
"hgvs_p": null,
"transcript": "ENST00000918690.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "HDLBP",
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"hgvs_c": "c.-234+522G>A",
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"transcript": "ENST00000918691.1",
"protein_id": "ENSP00000588750.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918691.1"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.-445+522G>A",
"hgvs_p": null,
"transcript": "ENST00000944579.1",
"protein_id": "ENSP00000614638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944579.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.005,
"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": "NM_005336.6",
"gene_symbol": "HDLBP",
"hgnc_id": 4857,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-103+990G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}