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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: 3-48751620-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48751620&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48751620,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004157.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "NM_004157.4",
"protein_id": "NP_004148.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 404,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1458,
"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": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "ENST00000265563.13",
"protein_id": "ENSP00000265563.8",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 404,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1458,
"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": "S",
"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.1114G>A",
"hgvs_p": "p.Gly372Ser",
"transcript": "ENST00000296446.12",
"protein_id": "ENSP00000296446.8",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 382,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296446.12"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "ENST00000706572.1",
"protein_id": "ENSP00000516457.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 458,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706572.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1255G>A",
"hgvs_p": "p.Gly419Ser",
"transcript": "ENST00000907505.1",
"protein_id": "ENSP00000577564.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 429,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907505.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "NM_001321982.2",
"protein_id": "NP_001308911.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 404,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321982.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "ENST00000454963.5",
"protein_id": "ENSP00000394041.1",
"transcript_support_level": 2,
"aa_start": 394,
"aa_end": null,
"aa_length": 404,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454963.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "ENST00000907504.1",
"protein_id": "ENSP00000577563.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 404,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907504.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1114G>A",
"hgvs_p": "p.Gly372Ser",
"transcript": "NM_001321983.2",
"protein_id": "NP_001308912.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 382,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321983.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1096G>A",
"hgvs_p": "p.Gly366Ser",
"transcript": "NM_001321989.2",
"protein_id": "NP_001308918.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 376,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 6408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321989.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1096G>A",
"hgvs_p": "p.Gly366Ser",
"transcript": "ENST00000706570.1",
"protein_id": "ENSP00000516455.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 376,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706570.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1096G>A",
"hgvs_p": "p.Gly366Ser",
"transcript": "ENST00000907506.1",
"protein_id": "ENSP00000577565.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 376,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907506.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1078G>A",
"hgvs_p": "p.Gly360Ser",
"transcript": "ENST00000941073.1",
"protein_id": "ENSP00000611132.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 370,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941073.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.241G>A",
"hgvs_p": "p.Gly81Ser",
"transcript": "ENST00000457914.5",
"protein_id": "ENSP00000409239.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 91,
"cds_start": 241,
"cds_end": null,
"cds_length": 276,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457914.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1180G>A",
"hgvs_p": "p.Gly394Ser",
"transcript": "XM_011533942.4",
"protein_id": "XP_011532244.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 404,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533942.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.1114G>A",
"hgvs_p": "p.Gly372Ser",
"transcript": "XM_047448543.1",
"protein_id": "XP_047304499.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 382,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1392,
"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.*45G>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.*382G>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.*45G>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.586-3680G>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.463-200G>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.*961G>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_score_selected": 0.5705581307411194,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2603,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"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
}