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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: 15-64204454-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64204454&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSNK1G1",
"hgnc_id": 2454,
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001329605.2",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000259316",
"hgnc_id": null,
"hgvs_c": "n.1601T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000634251.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.3935,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5377967357635498,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8085,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_022048.5",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000303052.13",
"protein_coding": true,
"protein_id": "NP_071331.2",
"strand": false,
"transcript": "NM_022048.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8085,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000303052.13",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022048.5",
"protein_coding": true,
"protein_id": "ENSP00000305777.7",
"strand": false,
"transcript": "ENST00000303052.13",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 475,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1428,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000607537.6",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475724.1",
"strand": false,
"transcript": "ENST00000607537.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 438,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1317,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000561349.6",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476088.2",
"strand": false,
"transcript": "ENST00000561349.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000606225.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "n.986T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475325.1",
"strand": false,
"transcript": "ENST00000606225.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000634251.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000259316",
"hgvs_c": "n.1601T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000634251.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 475,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1428,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001329605.2",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316534.1",
"strand": false,
"transcript": "NM_001329605.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 459,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1380,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000634654.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489233.1",
"strand": false,
"transcript": "ENST00000634654.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 459,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1380,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000634811.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489116.1",
"strand": false,
"transcript": "ENST00000634811.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 459,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1380,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887582.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557641.1",
"strand": false,
"transcript": "ENST00000887582.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 438,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1317,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001329607.2",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316536.1",
"strand": false,
"transcript": "NM_001329607.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5548,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1293,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000635142.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489165.1",
"strand": false,
"transcript": "ENST00000635142.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919647.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.1010T>A",
"hgvs_p": "p.Val337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589706.1",
"strand": false,
"transcript": "ENST00000919647.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8007,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001329606.2",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316535.1",
"strand": false,
"transcript": "NM_001329606.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000606793.3",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475686.2",
"strand": false,
"transcript": "ENST00000606793.3",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887581.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557640.1",
"strand": false,
"transcript": "ENST00000887581.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000887583.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557642.1",
"strand": false,
"transcript": "ENST00000887583.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000919646.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589705.1",
"strand": false,
"transcript": "ENST00000919646.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919648.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589707.1",
"strand": false,
"transcript": "ENST00000919648.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1269,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947286.1",
"gene_hgnc_id": 2454,
"gene_symbol": "CSNK1G1",
"hgvs_c": "c.986T>A",
"hgvs_p": "p.Val329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617345.1",
"strand": false,
"transcript": "ENST00000947286.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
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