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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: 19-15423132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15423132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WIZ",
"hgnc_id": 30917,
"hgvs_c": "c.5614C>T",
"hgvs_p": "p.Pro1872Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001371589.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0716,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14667463302612305,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1889,
"aa_ref": "P",
"aa_start": 1872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8987,
"cdna_start": 5833,
"cds_end": null,
"cds_length": 5670,
"cds_start": 5614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001371589.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5614C>T",
"hgvs_p": "p.Pro1872Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000673675.1",
"protein_coding": true,
"protein_id": "NP_001358518.1",
"strand": false,
"transcript": "NM_001371589.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1889,
"aa_ref": "P",
"aa_start": 1872,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8987,
"cdna_start": 5833,
"cds_end": null,
"cds_length": 5670,
"cds_start": 5614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000673675.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5614C>T",
"hgvs_p": "p.Pro1872Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001371589.1",
"protein_coding": true,
"protein_id": "ENSP00000500993.1",
"strand": false,
"transcript": "ENST00000673675.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 965,
"aa_ref": "P",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545156.5",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.2842C>T",
"hgvs_p": "p.Pro948Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445824.1",
"strand": false,
"transcript": "ENST00000545156.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 832,
"aa_ref": "P",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000389282.8",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.2443C>T",
"hgvs_p": "p.Pro815Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373933.5",
"strand": false,
"transcript": "ENST00000389282.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "P",
"aa_start": 1815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7236,
"cdna_start": 5649,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5443,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000864800.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5443C>T",
"hgvs_p": "p.Pro1815Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534861.1",
"strand": false,
"transcript": "ENST00000864800.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1832,
"aa_ref": "P",
"aa_start": 1815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6750,
"cdna_start": 5712,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5443,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000926419.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5443C>T",
"hgvs_p": "p.Pro1815Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596478.1",
"strand": false,
"transcript": "ENST00000926419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1756,
"aa_ref": "P",
"aa_start": 1739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 5434,
"cds_end": null,
"cds_length": 5271,
"cds_start": 5215,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439242.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5215C>T",
"hgvs_p": "p.Pro1739Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426171.1",
"strand": false,
"transcript": "NM_001439242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "P",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8498,
"cdna_start": 5344,
"cds_end": null,
"cds_length": 5100,
"cds_start": 5044,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001411129.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5044C>T",
"hgvs_p": "p.Pro1682Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398058.1",
"strand": false,
"transcript": "NM_001411129.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "P",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8417,
"cdna_start": 5263,
"cds_end": null,
"cds_length": 5100,
"cds_start": 5044,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439243.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5044C>T",
"hgvs_p": "p.Pro1682Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426172.1",
"strand": false,
"transcript": "NM_001439243.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "P",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6299,
"cdna_start": 5258,
"cds_end": null,
"cds_length": 5100,
"cds_start": 5044,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000643092.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.5044C>T",
"hgvs_p": "p.Pro1682Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495441.1",
"strand": false,
"transcript": "ENST00000643092.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "P",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": 4863,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4540,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926418.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Pro1514Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596477.1",
"strand": false,
"transcript": "ENST00000926418.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "P",
"aa_start": 1135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6776,
"cdna_start": 3622,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3403,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439244.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3403C>T",
"hgvs_p": "p.Pro1135Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426173.1",
"strand": false,
"transcript": "NM_001439244.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "P",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 3695,
"cds_end": null,
"cds_length": 3348,
"cds_start": 3292,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439245.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3292C>T",
"hgvs_p": "p.Pro1098Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426174.1",
"strand": false,
"transcript": "NM_001439245.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "P",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4492,
"cdna_start": 3451,
"cds_end": null,
"cds_length": 3288,
"cds_start": 3232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000864804.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3232C>T",
"hgvs_p": "p.Pro1078Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534863.1",
"strand": false,
"transcript": "ENST00000864804.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1095,
"aa_ref": "P",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4600,
"cdna_start": 3555,
"cds_end": null,
"cds_length": 3288,
"cds_start": 3232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926417.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3232C>T",
"hgvs_p": "p.Pro1078Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596476.1",
"strand": false,
"transcript": "ENST00000926417.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "P",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 3202,
"cds_end": null,
"cds_length": 3201,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001371603.5",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Pro1049Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358532.2",
"strand": false,
"transcript": "NM_001371603.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "P",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 3202,
"cds_end": null,
"cds_length": 3201,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674001.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Pro1049Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501300.1",
"strand": false,
"transcript": "ENST00000674001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "P",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 3524,
"cds_end": null,
"cds_length": 3177,
"cds_start": 3121,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439246.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.3121C>T",
"hgvs_p": "p.Pro1041Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426175.1",
"strand": false,
"transcript": "NM_001439246.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 968,
"aa_ref": "P",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6098,
"cdna_start": 2944,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2851,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001439247.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Pro951Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426176.1",
"strand": false,
"transcript": "NM_001439247.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 968,
"aa_ref": "P",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6174,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2851,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001439248.1",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Pro951Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426177.1",
"strand": false,
"transcript": "NM_001439248.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 968,
"aa_ref": "P",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 3000,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2851,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000599910.6",
"gene_hgnc_id": 30917,
"gene_symbol": "WIZ",
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