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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: 3-56594003-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56594003&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56594003,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394672.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001141947.3",
"protein_id": "NP_001135419.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 948,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": "ENST00000394672.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "ENST00000394672.8",
"protein_id": "ENSP00000378167.3",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 948,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": "NM_001141947.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "ENST00000326595.11",
"protein_id": "ENSP00000326050.7",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 914,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3027,
"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": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.*667G>A",
"hgvs_p": null,
"transcript": "ENST00000341455.10",
"protein_id": "ENSP00000343840.6",
"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": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.*667G>A",
"hgvs_p": null,
"transcript": "ENST00000341455.10",
"protein_id": "ENSP00000343840.6",
"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": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001353147.1",
"protein_id": "NP_001340076.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 954,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001353148.1",
"protein_id": "NP_001340077.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 942,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453Gln",
"transcript": "NM_001353149.1",
"protein_id": "NP_001340078.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 941,
"cds_start": 1358,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Gln",
"transcript": "NM_001353150.1",
"protein_id": "NP_001340079.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 925,
"cds_start": 1310,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427Gln",
"transcript": "NM_001353151.1",
"protein_id": "NP_001340080.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 915,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "NM_001012506.5",
"protein_id": "NP_001012524.4",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 914,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "NM_001353152.1",
"protein_id": "NP_001340081.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 914,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "NM_001353153.1",
"protein_id": "NP_001340082.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 914,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Arg417Gln",
"transcript": "NM_001353154.1",
"protein_id": "NP_001340083.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 905,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410Gln",
"transcript": "NM_001353155.1",
"protein_id": "NP_001340084.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 898,
"cds_start": 1229,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Gln",
"transcript": "NM_001353156.1",
"protein_id": "NP_001340085.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 649,
"cds_start": 482,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000422222.5",
"protein_id": "ENSP00000401451.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 632,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1901,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118Gln",
"transcript": "NM_001353158.1",
"protein_id": "NP_001340087.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 606,
"cds_start": 353,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96Gln",
"transcript": "NM_001353160.1",
"protein_id": "NP_001340089.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 584,
"cds_start": 287,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453Gln",
"transcript": "XM_005265082.5",
"protein_id": "XP_005265139.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 947,
"cds_start": 1358,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427Gln",
"transcript": "XM_011533615.3",
"protein_id": "XP_011531917.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 921,
"cds_start": 1280,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "XM_011533616.4",
"protein_id": "XP_011531918.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 920,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.1277G>A",
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000394672.8",
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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
}