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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: 20-44480429-GTC-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44480429&ref=GTC&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TTPAL",
"hgnc_id": 16114,
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_024331.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6224,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001039199.3",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262605.9",
"protein_coding": true,
"protein_id": "NP_001034288.1",
"strand": true,
"transcript": "NM_001039199.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6224,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262605.9",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039199.3",
"protein_coding": true,
"protein_id": "ENSP00000262605.4",
"strand": true,
"transcript": "ENST00000262605.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6234,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372904.7",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361995.3",
"strand": true,
"transcript": "ENST00000372904.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024331.5",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_077307.2",
"strand": true,
"transcript": "NM_024331.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901707.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571766.1",
"strand": true,
"transcript": "ENST00000901707.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901708.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571767.1",
"strand": true,
"transcript": "ENST00000901708.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6223,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901712.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571771.1",
"strand": true,
"transcript": "ENST00000901712.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901715.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571774.1",
"strand": true,
"transcript": "ENST00000901715.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901717.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571776.1",
"strand": true,
"transcript": "ENST00000901717.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901721.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571780.1",
"strand": true,
"transcript": "ENST00000901721.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6439,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901722.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571781.1",
"strand": true,
"transcript": "ENST00000901722.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901723.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571782.1",
"strand": true,
"transcript": "ENST00000901723.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901726.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571785.1",
"strand": true,
"transcript": "ENST00000901726.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 1029,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945911.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615970.1",
"strand": true,
"transcript": "ENST00000945911.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1011,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901720.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571779.1",
"strand": true,
"transcript": "ENST00000901720.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 320,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 508,
"cds_end": null,
"cds_length": 963,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901714.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571773.1",
"strand": true,
"transcript": "ENST00000901714.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 563,
"cds_end": null,
"cds_length": 927,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001261839.2",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248768.1",
"strand": true,
"transcript": "NM_001261839.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 794,
"cds_end": null,
"cds_length": 927,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901709.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571768.1",
"strand": true,
"transcript": "ENST00000901709.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 854,
"cds_end": null,
"cds_length": 927,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901710.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571769.1",
"strand": true,
"transcript": "ENST00000901710.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 565,
"cds_end": null,
"cds_length": 927,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901719.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571778.1",
"strand": true,
"transcript": "ENST00000901719.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 308,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 612,
"cds_end": null,
"cds_length": 927,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901725.1",
"gene_hgnc_id": 16114,
"gene_symbol": "TTPAL",
"hgvs_c": "c.430_432delGTCinsATT",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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