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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: 17-18251196-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18251196&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18251196,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_002018.4",
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1596+69A>G",
"hgvs_p": null,
"transcript": "NM_002018.4",
"protein_id": "NP_002009.1",
"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": "ENST00000327031.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002018.4"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1596+69A>G",
"hgvs_p": null,
"transcript": "ENST00000327031.9",
"protein_id": "ENSP00000324573.4",
"transcript_support_level": 1,
"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": "NM_002018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327031.9"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1563+69A>G",
"hgvs_p": null,
"transcript": "ENST00000579294.5",
"protein_id": "ENSP00000463534.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1258,
"cds_start": null,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579294.5"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1596+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855814.1",
"protein_id": "ENSP00000525873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1280,
"cds_start": null,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855814.1"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1593+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855810.1",
"protein_id": "ENSP00000525869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1279,
"cds_start": null,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855810.1"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1596+69A>G",
"hgvs_p": null,
"transcript": "ENST00000960101.1",
"protein_id": "ENSP00000630160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1276,
"cds_start": null,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960101.1"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1596+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855809.1",
"protein_id": "ENSP00000525868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": null,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855809.1"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1593+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855804.1",
"protein_id": "ENSP00000525863.1",
"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": "ENST00000855804.1"
},
{
"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": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1593+69A>G",
"hgvs_p": null,
"transcript": "ENST00000938404.1",
"protein_id": "ENSP00000608463.1",
"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": "ENST00000938404.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1590+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855812.1",
"protein_id": "ENSP00000525871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "ENST00000855812.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "FLII",
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"hgvs_c": "c.1596+69A>G",
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"transcript": "ENST00000938405.1",
"protein_id": "ENSP00000608464.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"hgvs_c": "c.1593+69A>G",
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"transcript": "ENST00000938403.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "FLII",
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"transcript": "ENST00000960099.1",
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},
{
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],
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"gene_symbol": "FLII",
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"hgvs_c": "c.1563+69A>G",
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"transcript": "NM_001256264.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1596+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855816.1",
"protein_id": "ENSP00000525875.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "FLII",
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"transcript": "ENST00000960112.1",
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"feature": "ENST00000960112.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1593+69A>G",
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"transcript": "ENST00000938409.1",
"protein_id": "ENSP00000608468.1",
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},
{
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],
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"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1593+69A>G",
"hgvs_p": null,
"transcript": "ENST00000960103.1",
"protein_id": "ENSP00000630162.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1524+69A>G",
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"protein_id": "ENSP00000630173.1",
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},
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],
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"gene_symbol": "FLII",
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},
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"consequences": [
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],
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"biotype": "protein_coding",
"feature": "ENST00000960107.1"
},
{
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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": 12,
"intron_rank_end": null,
"gene_symbol": "FLII",
"gene_hgnc_id": 3750,
"hgvs_c": "c.1524+69A>G",
"hgvs_p": null,
"transcript": "ENST00000855808.1",
"protein_id": "ENSP00000525867.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855808.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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{
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{
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],
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"computational_score_selected": -0.8600000143051147,
"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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"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.17,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NM_002018.4",
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"effects": [
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"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
}