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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: 8-144394005-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144394005&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144394005,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013291.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3893G>A",
"hgvs_p": "p.Arg1298His",
"transcript": "NM_013291.3",
"protein_id": "NP_037423.2",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616140.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013291.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3893G>A",
"hgvs_p": "p.Arg1298His",
"transcript": "ENST00000616140.2",
"protein_id": "ENSP00000484669.1",
"transcript_support_level": 1,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013291.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616140.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3893G>A",
"hgvs_p": "p.Arg1298His",
"transcript": "ENST00000620219.4",
"protein_id": "ENSP00000478145.1",
"transcript_support_level": 1,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1443,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620219.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3917G>A",
"hgvs_p": "p.Arg1306His",
"transcript": "ENST00000886816.1",
"protein_id": "ENSP00000556875.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3917,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886816.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3890G>A",
"hgvs_p": "p.Arg1297His",
"transcript": "ENST00000886809.1",
"protein_id": "ENSP00000556868.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886809.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3890G>A",
"hgvs_p": "p.Arg1297His",
"transcript": "ENST00000886811.1",
"protein_id": "ENSP00000556870.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886811.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3890G>A",
"hgvs_p": "p.Arg1297His",
"transcript": "ENST00000886813.1",
"protein_id": "ENSP00000556872.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886813.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3890G>A",
"hgvs_p": "p.Arg1297His",
"transcript": "ENST00000913997.1",
"protein_id": "ENSP00000584056.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913997.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3890G>A",
"hgvs_p": "p.Arg1297His",
"transcript": "ENST00000913998.1",
"protein_id": "ENSP00000584057.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913998.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3887G>A",
"hgvs_p": "p.Arg1296His",
"transcript": "ENST00000886814.1",
"protein_id": "ENSP00000556873.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3887,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886814.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3884G>A",
"hgvs_p": "p.Arg1295His",
"transcript": "ENST00000886810.1",
"protein_id": "ENSP00000556869.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3884,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886810.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3884G>A",
"hgvs_p": "p.Arg1295His",
"transcript": "ENST00000886815.1",
"protein_id": "ENSP00000556874.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3884,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886815.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3884G>A",
"hgvs_p": "p.Arg1295His",
"transcript": "ENST00000913996.1",
"protein_id": "ENSP00000584055.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3884,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913996.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3878G>A",
"hgvs_p": "p.Arg1293His",
"transcript": "ENST00000886812.1",
"protein_id": "ENSP00000556871.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886812.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3878G>A",
"hgvs_p": "p.Arg1293His",
"transcript": "ENST00000886817.1",
"protein_id": "ENSP00000556876.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886817.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3878G>A",
"hgvs_p": "p.Arg1293His",
"transcript": "ENST00000913994.1",
"protein_id": "ENSP00000584053.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913994.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3875G>A",
"hgvs_p": "p.Arg1292His",
"transcript": "ENST00000886818.1",
"protein_id": "ENSP00000556877.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3875,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886818.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3869G>A",
"hgvs_p": "p.Arg1290His",
"transcript": "ENST00000886819.1",
"protein_id": "ENSP00000556878.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3869,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886819.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3803G>A",
"hgvs_p": "p.Arg1268His",
"transcript": "ENST00000913993.1",
"protein_id": "ENSP00000584052.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1413,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913993.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Arg59His",
"transcript": "ENST00000531727.5",
"protein_id": "ENSP00000483775.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 204,
"cds_start": 176,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531727.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128His",
"transcript": "ENST00000532935.5",
"protein_id": "ENSP00000478161.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 167,
"cds_start": 383,
"cds_end": null,
"cds_length": 505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532935.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF1",
"gene_hgnc_id": 2324,
"hgvs_c": "c.3884G>A",
"hgvs_p": "p.Arg1295His",
"transcript": "XM_006716548.3",
"protein_id": "XP_006716611.1",
"transcript_support_level": null,
"aa_start": 1295,
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.638,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013291.3",
"gene_symbol": "CPSF1",
"hgnc_id": 2324,
"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NR_030635.1",
"gene_symbol": "MIR939",
"hgnc_id": 33682,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}