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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: 22-24225351-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24225351&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24225351,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001099781.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_004121.5",
"protein_id": "NP_004112.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 586,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327365.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004121.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000327365.10",
"protein_id": "ENSP00000330080.4",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 586,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004121.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327365.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467His",
"transcript": "ENST00000398292.3",
"protein_id": "ENSP00000381340.3",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 587,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398292.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434His",
"transcript": "ENST00000263112.11",
"protein_id": "ENSP00000263112.7",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 554,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263112.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1475G>A",
"hgvs_p": "p.Arg492His",
"transcript": "ENST00000941039.1",
"protein_id": "ENSP00000611098.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 643,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941039.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472His",
"transcript": "ENST00000907670.1",
"protein_id": "ENSP00000577729.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 623,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907670.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467His",
"transcript": "ENST00000907663.1",
"protein_id": "ENSP00000577722.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 618,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907663.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498His",
"transcript": "ENST00000941034.1",
"protein_id": "ENSP00000611093.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 618,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941034.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000907669.1",
"protein_id": "ENSP00000577728.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 615,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907669.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"transcript": "ENST00000907680.1",
"protein_id": "ENSP00000577739.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 610,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907680.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484His",
"transcript": "ENST00000907656.1",
"protein_id": "ENSP00000577715.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 604,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907656.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483His",
"transcript": "ENST00000907682.1",
"protein_id": "ENSP00000577741.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 603,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907682.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"transcript": "ENST00000907681.1",
"protein_id": "ENSP00000577740.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 601,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907681.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472His",
"transcript": "ENST00000907658.1",
"protein_id": "ENSP00000577717.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 592,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907658.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000907678.1",
"protein_id": "ENSP00000577737.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 591,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907678.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467His",
"transcript": "NM_001099781.2",
"protein_id": "NP_001093251.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 587,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099781.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000907655.1",
"protein_id": "ENSP00000577714.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 586,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907655.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000907659.1",
"protein_id": "ENSP00000577718.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 586,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907659.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Arg435His",
"transcript": "ENST00000941028.1",
"protein_id": "ENSP00000611087.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 586,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941028.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467His",
"transcript": "ENST00000941038.1",
"protein_id": "ENSP00000611097.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 586,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941038.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1391G>A",
"hgvs_p": "p.Arg464His",
"transcript": "ENST00000941040.1",
"protein_id": "ENSP00000611099.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 584,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941040.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT5",
"gene_hgnc_id": 4260,
"hgvs_c": "c.1388G>A",
"hgvs_p": "p.Arg463His",
"transcript": "ENST00000907676.1",
"protein_id": "ENSP00000577735.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 583,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907676.1"
},
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"gnomad_exomes_af": 0.0000116381,
"gnomad_genomes_af": 0.0000197153,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8264251947402954,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.3081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.372,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001099781.2",
"gene_symbol": "GGT5",
"hgnc_id": 4260,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467His"
}
],
"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
}