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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: 20-54182662-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=54182662&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 54182662,
"ref": "T",
"alt": "C",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000655028.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.773T>C",
"hgvs_p": null,
"transcript": "ENST00000655028.2",
"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": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.279T>C",
"hgvs_p": null,
"transcript": "ENST00000792344.1",
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.264T>C",
"hgvs_p": null,
"transcript": "ENST00000792345.1",
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.127T>C",
"hgvs_p": null,
"transcript": "ENST00000792346.1",
"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": 406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.289-6698T>C",
"hgvs_p": null,
"transcript": "ENST00000792273.1",
"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": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.454+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792274.1",
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.336-6933T>C",
"hgvs_p": null,
"transcript": "ENST00000792275.1",
"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": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.304+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792276.1",
"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": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.209-6933T>C",
"hgvs_p": null,
"transcript": "ENST00000792277.1",
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.442+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792278.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.303+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792279.1",
"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": 688,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.266+4174T>C",
"hgvs_p": null,
"transcript": "ENST00000792280.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.335-6933T>C",
"hgvs_p": null,
"transcript": "ENST00000792281.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.362+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792282.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "ENSG00000286587",
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"hgvs_c": "n.337+28T>C",
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"transcript": "ENST00000792283.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.280-6698T>C",
"hgvs_p": null,
"transcript": "ENST00000792284.1",
"protein_id": null,
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},
{
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],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "ENSG00000286587",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.135-6698T>C",
"hgvs_p": null,
"transcript": "ENST00000792286.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.439+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792287.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "ENSG00000286587",
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"hgvs_c": "n.229+4174T>C",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.190+28T>C",
"hgvs_p": null,
"transcript": "ENST00000792290.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.219+4174T>C",
"hgvs_p": null,
"transcript": "ENST00000792291.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
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{
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{
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{
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],
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"gnomad_genomes_af": 0.580172,
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"gnomad_genomes_ac": 88214,
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"gnomad_genomes_homalt": 25850,
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"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.885,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000655028.2",
"gene_symbol": "ENSG00000286587",
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"effects": [
"non_coding_transcript_exon_variant"
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"inheritance_mode": "",
"hgvs_c": "n.773T>C",
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},
{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "XR_936882.4",
"gene_symbol": "LOC105372675",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.274+28T>C",
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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
}