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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: 17-61389340-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61389340&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61389340,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000407086.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2594-2637T>A",
"hgvs_p": null,
"transcript": "NM_017679.5",
"protein_id": "NP_060149.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "ENST00000407086.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2594-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000407086.8",
"protein_id": "ENSP00000385323.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "NM_017679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2639-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000390652.9",
"protein_id": "ENSP00000375067.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2750+632T>A",
"hgvs_p": null,
"transcript": "ENST00000589222.5",
"protein_id": "ENSP00000466078.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3673,
"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": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.1240-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000592702.5",
"protein_id": null,
"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": 2094,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.1065T>A",
"hgvs_p": null,
"transcript": "ENST00000588720.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2729-2637T>A",
"hgvs_p": null,
"transcript": "NM_001353144.2",
"protein_id": "NP_001340073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": -4,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2705-2637T>A",
"hgvs_p": null,
"transcript": "NM_001330413.2",
"protein_id": "NP_001317342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2705-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000588462.5",
"protein_id": "ENSP00000468592.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2684-2637T>A",
"hgvs_p": null,
"transcript": "NM_001353145.2",
"protein_id": "NP_001340074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": -4,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2660-2637T>A",
"hgvs_p": null,
"transcript": "NM_001330414.2",
"protein_id": "NP_001317343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
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"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2660-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000408905.7",
"protein_id": "ENSP00000386173.2",
"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,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2639-2637T>A",
"hgvs_p": null,
"transcript": "NM_001099432.3",
"protein_id": "NP_001092902.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 928,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2750+632T>A",
"hgvs_p": null,
"transcript": "NM_001320470.3",
"protein_id": "NP_001307399.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2729+632T>A",
"hgvs_p": null,
"transcript": "NM_001353146.2",
"protein_id": "NP_001340075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
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"cds_length": 2766,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1952-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000585744.5",
"protein_id": "ENSP00000468682.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1907-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000588874.5",
"protein_id": "ENSP00000464825.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 684,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.28+10876A>T",
"hgvs_p": null,
"transcript": "ENST00000585765.1",
"protein_id": null,
"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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"cdna_length": 470,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.1360-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000585812.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
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"hgvs_c": "n.732-2637T>A",
"hgvs_p": null,
"transcript": "ENST00000587294.5",
"protein_id": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.578+632T>A",
"hgvs_p": null,
"transcript": "ENST00000588569.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.104+10876A>T",
"hgvs_p": null,
"transcript": "ENST00000717203.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.113+10876A>T",
"hgvs_p": null,
"transcript": "ENST00000722629.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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},
{
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"gene_symbol": "TBX2-AS1",
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}
],
"gene_symbol": "BCAS3",
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"hom_count_reference_population": 29700,
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"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.164,
"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": "ENST00000407086.8",
"gene_symbol": "BCAS3",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.2594-2637T>A",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000717203.1",
"gene_symbol": "TBX2-AS1",
"hgnc_id": 50355,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104+10876A>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
}