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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: 11-7665448-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7665448&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 7665448,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016229.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "NM_016229.5",
"protein_id": "NP_057313.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": "ENST00000299498.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016229.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000299498.11",
"protein_id": "ENSP00000299498.6",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": "NM_016229.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299498.11"
},
{
"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": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.*156C>G",
"hgvs_p": null,
"transcript": "ENST00000524790.5",
"protein_id": "ENSP00000435916.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524790.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.Pro275Ala",
"transcript": "ENST00000917897.1",
"protein_id": "ENSP00000587956.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 298,
"cds_start": 823,
"cds_end": null,
"cds_length": 897,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917897.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.817C>G",
"hgvs_p": "p.Pro273Ala",
"transcript": "ENST00000872671.1",
"protein_id": "ENSP00000542730.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 296,
"cds_start": 817,
"cds_end": null,
"cds_length": 891,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872671.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000872675.1",
"protein_id": "ENSP00000542734.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 282,
"cds_start": 775,
"cds_end": null,
"cds_length": 849,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872675.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000954656.1",
"protein_id": "ENSP00000624715.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 282,
"cds_start": 775,
"cds_end": null,
"cds_length": 849,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954656.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "NM_001302826.2",
"protein_id": "NP_001289755.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302826.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000533558.5",
"protein_id": "ENSP00000437041.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533558.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000872666.1",
"protein_id": "ENSP00000542725.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872666.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000872667.1",
"protein_id": "ENSP00000542726.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872667.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000872668.1",
"protein_id": "ENSP00000542727.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872668.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000872670.1",
"protein_id": "ENSP00000542729.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872670.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000872672.1",
"protein_id": "ENSP00000542731.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872672.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000872674.1",
"protein_id": "ENSP00000542733.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872674.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Pro253Ala",
"transcript": "ENST00000954657.1",
"protein_id": "ENSP00000624716.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 276,
"cds_start": 757,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954657.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "ENST00000917893.1",
"protein_id": "ENSP00000587952.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 239,
"cds_start": 646,
"cds_end": null,
"cds_length": 720,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917893.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.577C>G",
"hgvs_p": "p.Pro193Ala",
"transcript": "ENST00000872669.1",
"protein_id": "ENSP00000542728.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 216,
"cds_start": 577,
"cds_end": null,
"cds_length": 651,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872669.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.577C>G",
"hgvs_p": "p.Pro193Ala",
"transcript": "ENST00000917895.1",
"protein_id": "ENSP00000587954.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 216,
"cds_start": 577,
"cds_end": null,
"cds_length": 651,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917895.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Pro174Ala",
"transcript": "ENST00000872673.1",
"protein_id": "ENSP00000542732.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 197,
"cds_start": 520,
"cds_end": null,
"cds_length": 594,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872673.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Pro174Ala",
"transcript": "ENST00000917892.1",
"protein_id": "ENSP00000587951.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 197,
"cds_start": 520,
"cds_end": null,
"cds_length": 594,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917892.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R2",
"gene_hgnc_id": 24376,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Pro174Ala",
"transcript": "ENST00000917894.1",
"protein_id": "ENSP00000587953.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 197,
"cds_start": 520,
"cds_end": null,
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"bayesdelnoaf_score": -0.28,
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{
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],
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{
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],
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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
}