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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: 10-45750100-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45750100&ref=C&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": "WASHC2C",
"hgnc_id": 23414,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001367395.1",
"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": 0.085,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0921701192855835,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 789,
"cds_end": null,
"cds_length": 4026,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001330074.2",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000623400.4",
"protein_coding": true,
"protein_id": "NP_001317003.1",
"strand": true,
"transcript": "NM_001330074.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 789,
"cds_end": null,
"cds_length": 4026,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000623400.4",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330074.2",
"protein_coding": true,
"protein_id": "ENSP00000485513.1",
"strand": true,
"transcript": "ENST00000623400.4",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 836,
"cds_end": null,
"cds_length": 3963,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000374362.6",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363482.2",
"strand": true,
"transcript": "ENST00000374362.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 820,
"cds_end": null,
"cds_length": 3840,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000540872.6",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439811.1",
"strand": true,
"transcript": "ENST00000540872.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1370,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 817,
"cds_end": null,
"cds_length": 4113,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884843.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554902.1",
"strand": true,
"transcript": "ENST00000884843.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1362,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 789,
"cds_end": null,
"cds_length": 4089,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001367395.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354324.1",
"strand": true,
"transcript": "NM_001367395.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "T",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 786,
"cds_end": null,
"cds_length": 4071,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968485.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Thr245Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638544.1",
"strand": true,
"transcript": "ENST00000968485.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1349,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 799,
"cds_end": null,
"cds_length": 4050,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968495.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638554.1",
"strand": true,
"transcript": "ENST00000968495.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "T",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 834,
"cds_end": null,
"cds_length": 4023,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884848.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Thr245Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554907.1",
"strand": true,
"transcript": "ENST00000884848.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 847,
"cds_end": null,
"cds_length": 4023,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968461.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638520.1",
"strand": true,
"transcript": "ENST00000968461.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "T",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 834,
"cds_end": null,
"cds_length": 4023,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968469.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Thr245Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638528.1",
"strand": true,
"transcript": "ENST00000968469.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 777,
"cds_end": null,
"cds_length": 4020,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884847.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554906.1",
"strand": true,
"transcript": "ENST00000884847.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 816,
"cds_end": null,
"cds_length": 4020,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919846.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589905.1",
"strand": true,
"transcript": "ENST00000919846.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 814,
"cds_end": null,
"cds_length": 4017,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968474.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.728C>A",
"hgvs_p": "p.Thr243Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638533.1",
"strand": true,
"transcript": "ENST00000968474.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1335,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 788,
"cds_end": null,
"cds_length": 4008,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968486.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638545.1",
"strand": true,
"transcript": "ENST00000968486.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4626,
"cdna_start": 807,
"cds_end": null,
"cds_length": 3999,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968481.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638540.1",
"strand": true,
"transcript": "ENST00000968481.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 817,
"cds_end": null,
"cds_length": 3966,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884852.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554911.1",
"strand": true,
"transcript": "ENST00000884852.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": 789,
"cds_end": null,
"cds_length": 3963,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015262.3",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056077.2",
"strand": true,
"transcript": "NM_015262.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "T",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4636,
"cdna_start": 849,
"cds_end": null,
"cds_length": 3960,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968457.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Thr245Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638516.1",
"strand": true,
"transcript": "ENST00000968457.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "T",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 840,
"cds_end": null,
"cds_length": 3960,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968463.1",
"gene_hgnc_id": 23414,
"gene_symbol": "WASHC2C",
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Thr245Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638522.1",
"strand": true,
"transcript": "ENST00000968463.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "T",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": 857,
"cds_end": null,
"cds_length": 3957,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 9,
"exon_rank_end": null,
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