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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: 16-69840168-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69840168&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69840168,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007014.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "NM_001270454.2",
"protein_id": "NP_001257383.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": "ENST00000359154.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270454.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000359154.7",
"protein_id": "ENSP00000352069.2",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": "NM_001270454.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359154.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "NM_007014.5",
"protein_id": "NP_008945.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007014.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903147.1",
"protein_id": "ENSP00000573206.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903147.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903148.1",
"protein_id": "ENSP00000573207.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903148.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903149.1",
"protein_id": "ENSP00000573208.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903149.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903150.1",
"protein_id": "ENSP00000573209.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903150.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903152.1",
"protein_id": "ENSP00000573211.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903152.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903153.1",
"protein_id": "ENSP00000573212.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903153.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903154.1",
"protein_id": "ENSP00000573213.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903154.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000920129.1",
"protein_id": "ENSP00000590188.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920129.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000920131.1",
"protein_id": "ENSP00000590190.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920131.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000947408.1",
"protein_id": "ENSP00000617467.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947408.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000903151.1",
"protein_id": "ENSP00000573210.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 846,
"cds_start": 383,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903151.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000920130.1",
"protein_id": "ENSP00000590189.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 817,
"cds_start": 383,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920130.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.35A>C",
"hgvs_p": "p.Lys12Thr",
"transcript": "NM_001270453.2",
"protein_id": "NP_001257382.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 754,
"cds_start": 35,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270453.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.35A>C",
"hgvs_p": "p.Lys12Thr",
"transcript": "ENST00000356003.6",
"protein_id": "ENSP00000348283.3",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 754,
"cds_start": 35,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356003.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "NM_001270455.2",
"protein_id": "NP_001257384.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 335,
"cds_start": 383,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270455.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000569174.5",
"protein_id": "ENSP00000455311.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 335,
"cds_start": 383,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569174.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "XM_011522823.3",
"protein_id": "XP_011521125.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522823.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "XM_011522825.2",
"protein_id": "XP_011521127.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522825.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWP2",
"gene_hgnc_id": 16804,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "XM_017022879.2",
"protein_id": "XP_016878368.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 870,
"cds_start": 383,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 632,
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
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{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_007014.5",
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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
}