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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: 10-95039038-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95039038&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95039038,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000770.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Gly384Ser",
"transcript": "NM_000770.3",
"protein_id": "NP_000761.3",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 490,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371270.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000770.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Gly384Ser",
"transcript": "ENST00000371270.6",
"protein_id": "ENSP00000360317.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 490,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000770.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371270.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Ser",
"transcript": "ENST00000854622.1",
"protein_id": "ENSP00000524681.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 517,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854622.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "ENST00000854631.1",
"protein_id": "ENSP00000524690.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 502,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854631.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Gly391Ser",
"transcript": "ENST00000854618.1",
"protein_id": "ENSP00000524677.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 497,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854618.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Gly382Ser",
"transcript": "ENST00000854621.1",
"protein_id": "ENSP00000524680.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 488,
"cds_start": 1144,
"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": "ENST00000854621.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Gly382Ser",
"transcript": "ENST00000854623.1",
"protein_id": "ENSP00000524682.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 488,
"cds_start": 1144,
"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": "ENST00000854623.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Gly384Ser",
"transcript": "ENST00000854627.1",
"protein_id": "ENSP00000524686.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 484,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854627.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Gly384Ser",
"transcript": "ENST00000854634.1",
"protein_id": "ENSP00000524693.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 481,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854634.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Gly338Ser",
"transcript": "ENST00000854626.1",
"protein_id": "ENSP00000524685.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 444,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854626.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Ser",
"transcript": "ENST00000854619.1",
"protein_id": "ENSP00000524678.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 443,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854619.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Gly334Ser",
"transcript": "ENST00000854617.1",
"protein_id": "ENSP00000524676.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 440,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854617.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Ser",
"transcript": "ENST00000854629.1",
"protein_id": "ENSP00000524688.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 423,
"cds_start": 949,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854629.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "NM_001198853.1",
"protein_id": "NP_001185782.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 420,
"cds_start": 940,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198853.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "NM_001198855.1",
"protein_id": "NP_001185784.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 420,
"cds_start": 940,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198855.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "ENST00000623108.3",
"protein_id": "ENSP00000485110.1",
"transcript_support_level": 2,
"aa_start": 314,
"aa_end": null,
"aa_length": 420,
"cds_start": 940,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623108.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "NM_001198854.1",
"protein_id": "NP_001185783.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 388,
"cds_start": 844,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198854.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "ENST00000535898.5",
"protein_id": "ENSP00000445062.1",
"transcript_support_level": 2,
"aa_start": 282,
"aa_end": null,
"aa_length": 388,
"cds_start": 844,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535898.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Gly274Ser",
"transcript": "ENST00000854625.1",
"protein_id": "ENSP00000524684.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 380,
"cds_start": 820,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854625.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Ser",
"transcript": "ENST00000854633.1",
"protein_id": "ENSP00000524692.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 362,
"cds_start": 766,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854633.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C8",
"gene_hgnc_id": 2622,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Gly226Ser",
"transcript": "ENST00000854624.1",
"protein_id": "ENSP00000524683.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 332,
"cds_start": 676,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854624.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.777999997138977,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.741,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3081,
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"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.981,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
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"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000770.3",
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"effects": [
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"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1150G>A",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}