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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: 3-48751593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48751593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48751593,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004157.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "NM_004157.4",
"protein_id": "NP_004148.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 404,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "ENST00000265563.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004157.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000265563.13",
"protein_id": "ENSP00000265563.8",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 404,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "NM_004157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265563.13"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Gly381Arg",
"transcript": "ENST00000296446.12",
"protein_id": "ENSP00000296446.8",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 382,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296446.12"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000706572.1",
"protein_id": "ENSP00000516457.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 458,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706572.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Gly428Arg",
"transcript": "ENST00000907505.1",
"protein_id": "ENSP00000577564.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 429,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907505.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "NM_001321982.2",
"protein_id": "NP_001308911.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 404,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321982.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000454963.5",
"protein_id": "ENSP00000394041.1",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 404,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454963.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000907504.1",
"protein_id": "ENSP00000577563.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 404,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907504.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Gly381Arg",
"transcript": "NM_001321983.2",
"protein_id": "NP_001308912.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 382,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321983.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg",
"transcript": "NM_001321989.2",
"protein_id": "NP_001308918.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 376,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 6408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321989.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg",
"transcript": "ENST00000706570.1",
"protein_id": "ENSP00000516455.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 376,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706570.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg",
"transcript": "ENST00000907506.1",
"protein_id": "ENSP00000577565.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 376,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907506.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Arg",
"transcript": "ENST00000941073.1",
"protein_id": "ENSP00000611132.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 370,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941073.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000457914.5",
"protein_id": "ENSP00000409239.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 91,
"cds_start": 268,
"cds_end": null,
"cds_length": 276,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457914.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "XM_011533942.4",
"protein_id": "XP_011532244.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 404,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533942.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Gly381Arg",
"transcript": "XM_047448543.1",
"protein_id": "XP_047304499.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 382,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.*72G>A",
"hgvs_p": null,
"transcript": "ENST00000438535.1",
"protein_id": "ENSP00000416438.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.*409G>A",
"hgvs_p": null,
"transcript": "XM_011533943.3",
"protein_id": "XP_011532245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533943.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.*72G>A",
"hgvs_p": null,
"transcript": "XM_005265315.5",
"protein_id": "XP_005265372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265315.5"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.586-3653G>A",
"hgvs_p": null,
"transcript": "ENST00000706573.1",
"protein_id": "ENSP00000516458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706573.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "c.463-173G>A",
"hgvs_p": null,
"transcript": "ENST00000437821.2",
"protein_id": "ENSP00000400840.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437821.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2A",
"gene_hgnc_id": 9391,
"hgvs_c": "n.*988G>A",
"hgvs_p": null,
"transcript": "ENST00000706571.1",
"protein_id": "ENSP00000516456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Uncertain_significance",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_004157.4",
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"effects": [
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"inheritance_mode": "AD",
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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
}