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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: 10-28583498-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28583498&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 28583498,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354911.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "NM_016628.5",
"protein_id": "NP_057712.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 647,
"cds_start": 374,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": "ENST00000354911.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "ENST00000354911.9",
"protein_id": "ENSP00000346986.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 647,
"cds_start": 374,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": "NM_016628.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000375664.8",
"protein_id": "ENSP00000364816.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 602,
"cds_start": 239,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000428935.6",
"protein_id": "ENSP00000399706.3",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 297,
"cds_start": 239,
"cds_end": null,
"cds_length": 894,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000651885.1",
"protein_id": "ENSP00000498678.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 170,
"cds_start": 392,
"cds_end": null,
"cds_length": 514,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000651598.1",
"protein_id": "ENSP00000498480.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 157,
"cds_start": 239,
"cds_end": null,
"cds_length": 475,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 827,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.172C>T",
"hgvs_p": null,
"transcript": "ENST00000345541.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 4526,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "ENST00000628285.3",
"protein_id": "ENSP00000486994.2",
"transcript_support_level": 1,
"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": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Gln122*",
"transcript": "ENST00000706612.1",
"protein_id": "ENSP00000516469.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 643,
"cds_start": 364,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Gln83*",
"transcript": "ENST00000680735.1",
"protein_id": "ENSP00000505513.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 604,
"cds_start": 247,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ser121Leu",
"transcript": "ENST00000700325.1",
"protein_id": "ENSP00000514952.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 643,
"cds_start": 362,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "NM_100264.3",
"protein_id": "NP_567822.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 602,
"cds_start": 239,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000442148.6",
"protein_id": "ENSP00000400848.2",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 602,
"cds_start": 239,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000679398.1",
"protein_id": "ENSP00000506624.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 602,
"cds_start": 239,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 5486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000679428.1",
"protein_id": "ENSP00000506445.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 602,
"cds_start": 239,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "NM_100486.4",
"protein_id": "NP_567823.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 544,
"cds_start": 374,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "ENST00000347934.8",
"protein_id": "ENSP00000311106.4",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 544,
"cds_start": 374,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000375646.5",
"protein_id": "ENSP00000364797.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 495,
"cds_start": 239,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Leu",
"transcript": "ENST00000651441.1",
"protein_id": "ENSP00000498450.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 116,
"cds_start": 239,
"cds_end": null,
"cds_length": 352,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ser207Leu",
"transcript": "XM_047425309.1",
"protein_id": "XP_047281265.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 729,
"cds_start": 620,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"transcript": "XM_047425310.1",
"protein_id": "XP_047281266.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 693,
"cds_start": 512,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 6060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"transcript": "XM_047425311.1",
"protein_id": "XP_047281267.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 692,
"cds_start": 512,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "XM_047425312.1",
"protein_id": "XP_047281268.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 653,
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{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354911.9",
"gene_symbol": "WAC",
"hgnc_id": 17327,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}