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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: 2-187494293-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=187494293&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 187494293,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000233156.9",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "NM_006287.6",
"protein_id": "NP_006278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": "ENST00000233156.9",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000233156.9",
"protein_id": "ENSP00000233156.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": "NM_006287.6",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000339091.8",
"protein_id": "ENSP00000342306.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1088,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000409676.5",
"protein_id": "ENSP00000386344.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1119,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "NM_001329239.2",
"protein_id": "NP_001316168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4012,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "NM_001329240.2",
"protein_id": "NP_001316169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "NM_001329241.2",
"protein_id": "NP_001316170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3981,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000392365.5",
"protein_id": "ENSP00000376172.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3649,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "NM_001032281.4",
"protein_id": "NP_001027452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1092,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "NM_001318941.3",
"protein_id": "NP_001305870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1123,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000435414.5",
"protein_id": "ENSP00000409177.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 647,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.190-5213A>G",
"hgvs_p": null,
"transcript": "ENST00000412276.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.244-5213A>G",
"hgvs_p": null,
"transcript": "ENST00000453517.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 802,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "n.6566+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000481132.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "TFPI",
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"hgvs_c": "n.96+2588T>C",
"hgvs_p": null,
"transcript": "ENST00000481389.1",
"protein_id": null,
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"aa_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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.119-5213A>G",
"hgvs_p": null,
"transcript": "ENST00000729958.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "CALCRL-AS1",
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"hgvs_c": "n.191-5213A>G",
"hgvs_p": null,
"transcript": "NR_187178.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.191-5213A>G",
"hgvs_p": null,
"transcript": "NR_187179.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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"mane_select": null,
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},
{
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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": "CALCRL-AS1",
"gene_hgnc_id": 55863,
"hgvs_c": "n.634-5213A>G",
"hgvs_p": null,
"transcript": "NR_187180.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TFPI",
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"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "XM_047445617.1",
"protein_id": "XP_047301573.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TFPI",
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"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "XM_047445618.1",
"protein_id": "XP_047301574.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "XM_047445619.1",
"protein_id": "XP_047301575.1",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.319+2588T>C",
"hgvs_p": null,
"transcript": "XM_047445620.1",
"protein_id": "XP_047301576.1",
"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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"cdna_length": 4024,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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{
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{
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],
"gene_symbol": "TFPI",
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"gnomad_genomes_ac": 9969,
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"computational_score_selected": -0.9599999785423279,
"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,
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"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.224,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"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": "ENST00000233156.9",
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},
{
"score": -12,
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000453517.5",
"gene_symbol": "CALCRL-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.244-5213A>G",
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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
}