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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: 10-59654226-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59654226&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": "SLC16A9",
"hgnc_id": 23520,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_194298.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.0752,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "10",
"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": 0.2397935390472412,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_194298.3",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395348.8",
"protein_coding": true,
"protein_id": "NP_919274.1",
"strand": false,
"transcript": "NM_194298.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395348.8",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194298.3",
"protein_coding": true,
"protein_id": "ENSP00000378757.3",
"strand": false,
"transcript": "ENST00000395348.8",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1656,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881710.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551769.1",
"strand": false,
"transcript": "ENST00000881710.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1656,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881715.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551774.1",
"strand": false,
"transcript": "ENST00000881715.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4029,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323981.2",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310910.1",
"strand": false,
"transcript": "NM_001323981.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395347.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378756.1",
"strand": false,
"transcript": "ENST00000395347.1",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881708.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551767.1",
"strand": false,
"transcript": "ENST00000881708.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881719.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551778.1",
"strand": false,
"transcript": "ENST00000881719.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4762,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936199.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606258.1",
"strand": false,
"transcript": "ENST00000936199.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1530,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947928.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617987.1",
"strand": false,
"transcript": "ENST00000947928.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 494,
"aa_ref": "T",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1485,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881718.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551777.1",
"strand": false,
"transcript": "ENST00000881718.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 494,
"aa_ref": "T",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1485,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947927.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617986.1",
"strand": false,
"transcript": "ENST00000947927.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 477,
"aa_ref": "T",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1434,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881713.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551772.1",
"strand": false,
"transcript": "ENST00000881713.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 461,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1386,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881714.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551773.1",
"strand": false,
"transcript": "ENST00000881714.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 422,
"aa_ref": "T",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1269,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323977.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Thr180Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310906.1",
"strand": false,
"transcript": "NM_001323977.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 422,
"aa_ref": "T",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1269,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323978.2",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Thr180Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310907.1",
"strand": false,
"transcript": "NM_001323978.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 422,
"aa_ref": "T",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1269,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323979.2",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Thr180Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310908.1",
"strand": false,
"transcript": "NM_001323979.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 422,
"aa_ref": "T",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1269,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323980.2",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Thr180Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310909.1",
"strand": false,
"transcript": "NM_001323980.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 404,
"aa_ref": "T",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1215,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947929.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617988.1",
"strand": false,
"transcript": "ENST00000947929.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1656,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017015883.2",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871372.1",
"strand": false,
"transcript": "XM_017015883.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1656,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047424753.1",
"gene_hgnc_id": 23520,
"gene_symbol": "SLC16A9",
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