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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: 1-2172067-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2172067&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2172067,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002744.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Ala358Ala",
"transcript": "NM_002744.6",
"protein_id": "NP_002735.3",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 592,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378567.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002744.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Ala358Ala",
"transcript": "ENST00000378567.8",
"protein_id": "ENSP00000367830.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 592,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002744.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378567.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.525C>G",
"hgvs_p": "p.Ala175Ala",
"transcript": "ENST00000400921.6",
"protein_id": "ENSP00000383712.2",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 409,
"cds_start": 525,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400921.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Ala449Ala",
"transcript": "ENST00000965048.1",
"protein_id": "ENSP00000635107.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 683,
"cds_start": 1347,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965048.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1098C>G",
"hgvs_p": "p.Ala366Ala",
"transcript": "ENST00000877863.1",
"protein_id": "ENSP00000547922.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 600,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877863.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Ala358Ala",
"transcript": "ENST00000877864.1",
"protein_id": "ENSP00000547923.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 597,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877864.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.987C>G",
"hgvs_p": "p.Ala329Ala",
"transcript": "ENST00000877862.1",
"protein_id": "ENSP00000547921.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 563,
"cds_start": 987,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877862.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.807C>G",
"hgvs_p": "p.Ala269Ala",
"transcript": "ENST00000926524.1",
"protein_id": "ENSP00000596583.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 503,
"cds_start": 807,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926524.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ala254Ala",
"transcript": "NM_001242874.3",
"protein_id": "NP_001229803.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 488,
"cds_start": 762,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242874.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Ala254Ala",
"transcript": "ENST00000461106.6",
"protein_id": "ENSP00000426412.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 488,
"cds_start": 762,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461106.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Ala183Ala",
"transcript": "NM_001350803.2",
"protein_id": "NP_001337732.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 417,
"cds_start": 549,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350803.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Ala183Ala",
"transcript": "NM_001350804.2",
"protein_id": "NP_001337733.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 417,
"cds_start": 549,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350804.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.525C>G",
"hgvs_p": "p.Ala175Ala",
"transcript": "NM_001033581.3",
"protein_id": "NP_001028753.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 409,
"cds_start": 525,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033581.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.525C>G",
"hgvs_p": "p.Ala175Ala",
"transcript": "NM_001033582.3",
"protein_id": "NP_001028754.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 409,
"cds_start": 525,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033582.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"transcript": "NM_001350805.2",
"protein_id": "NP_001337734.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 355,
"cds_start": 363,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350805.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"transcript": "NM_001350806.2",
"protein_id": "NP_001337735.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 355,
"cds_start": 363,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350806.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1098C>G",
"hgvs_p": "p.Ala366Ala",
"transcript": "XM_017001789.2",
"protein_id": "XP_016857278.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 603,
"cds_start": 1098,
"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": "XM_017001789.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1098C>G",
"hgvs_p": "p.Ala366Ala",
"transcript": "XM_017001790.2",
"protein_id": "XP_016857279.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 600,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001790.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Ala358Ala",
"transcript": "XM_011541773.2",
"protein_id": "XP_011540075.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 595,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541773.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1059C>G",
"hgvs_p": "p.Ala353Ala",
"transcript": "XM_047425255.1",
"protein_id": "XP_047281211.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 587,
"cds_start": 1059,
"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": "XM_047425255.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.960C>G",
"hgvs_p": "p.Ala320Ala",
"transcript": "XM_047425260.1",
"protein_id": "XP_047281216.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 557,
"cds_start": 960,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425260.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.936C>G",
"hgvs_p": "p.Ala312Ala",
"transcript": "XM_047425262.1",
"protein_id": "XP_047281218.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 546,
"cds_start": 936,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425262.1"
},
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"gnomad_genomes_af": 0.00382055,
"gnomad_exomes_ac": 4732,
"gnomad_genomes_ac": 582,
"gnomad_exomes_homalt": 152,
"gnomad_genomes_homalt": 18,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.004,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002744.6",
"gene_symbol": "PRKCZ",
"hgnc_id": 9412,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Ala358Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}