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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: 8-26366341-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=26366341&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 26366341,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000380737.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.999C>T",
"hgvs_p": "p.Leu333Leu",
"transcript": "NM_002717.4",
"protein_id": "NP_002708.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 447,
"cds_start": 999,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": "ENST00000380737.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.999C>T",
"hgvs_p": "p.Leu333Leu",
"transcript": "ENST00000380737.8",
"protein_id": "ENSP00000370113.3",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 447,
"cds_start": 999,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": "NM_002717.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Leu343Leu",
"transcript": "NM_001177591.2",
"protein_id": "NP_001171062.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 457,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Leu343Leu",
"transcript": "ENST00000315985.7",
"protein_id": "ENSP00000325074.7",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 457,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Leu226Leu",
"transcript": "ENST00000665949.1",
"protein_id": "ENSP00000499648.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 340,
"cds_start": 678,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Leu174Leu",
"transcript": "ENST00000660435.1",
"protein_id": "ENSP00000499441.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 288,
"cds_start": 522,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Leu112Leu",
"transcript": "ENST00000524169.5",
"protein_id": "ENSP00000430320.1",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 196,
"cds_start": 336,
"cds_end": null,
"cds_length": 592,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Leu342Leu",
"transcript": "XM_011544565.2",
"protein_id": "XP_011542867.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 456,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Leu332Leu",
"transcript": "XM_005273559.2",
"protein_id": "XP_005273616.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 446,
"cds_start": 996,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.939C>T",
"hgvs_p": "p.Leu313Leu",
"transcript": "XM_024447186.2",
"protein_id": "XP_024302954.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 427,
"cds_start": 939,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Leu174Leu",
"transcript": "XM_024447187.2",
"protein_id": "XP_024302955.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 288,
"cds_start": 522,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Leu174Leu",
"transcript": "XM_047421933.1",
"protein_id": "XP_047277889.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 288,
"cds_start": 522,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Leu174Leu",
"transcript": "XM_047421934.1",
"protein_id": "XP_047277890.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 288,
"cds_start": 522,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Leu174Leu",
"transcript": "XM_047421935.1",
"protein_id": "XP_047277891.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 288,
"cds_start": 522,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3783,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.1296C>T",
"hgvs_p": null,
"transcript": "ENST00000517754.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2357,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.1244C>T",
"hgvs_p": null,
"transcript": "ENST00000518208.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1490,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.868C>T",
"hgvs_p": null,
"transcript": "ENST00000518215.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 1163,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.914C>T",
"hgvs_p": null,
"transcript": "ENST00000518890.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1237,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.1052C>T",
"hgvs_p": null,
"transcript": "ENST00000657943.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1818,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.639C>T",
"hgvs_p": null,
"transcript": "ENST00000665751.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1701,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.1306C>T",
"hgvs_p": null,
"transcript": "ENST00000666129.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2312,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "n.1005C>T",
"hgvs_p": null,
"transcript": "ENST00000667651.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"hgvs_c": "c.*19C>T",
"hgvs_p": null,
"transcript": "XM_047421936.1",
"protein_id": "XP_047277892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": -4,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP2R2A",
"gene_hgnc_id": 9304,
"dbsnp": "rs34109536",
"frequency_reference_population": 0.041041594,
"hom_count_reference_population": 1538,
"allele_count_reference_population": 65812,
"gnomad_exomes_af": 0.0421249,
"gnomad_genomes_af": 0.0307056,
"gnomad_exomes_ac": 61141,
"gnomad_genomes_ac": 4671,
"gnomad_exomes_homalt": 1453,
"gnomad_genomes_homalt": 85,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.901,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380737.8",
"gene_symbol": "PPP2R2A",
"hgnc_id": 9304,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.999C>T",
"hgvs_p": "p.Leu333Leu"
}
],
"clinvar_disease": "Hereditary breast ovarian cancer syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Hereditary breast ovarian cancer syndrome|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}