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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: 1-161362378-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161362378&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SDHC",
"hgnc_id": 10682,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Trp97*",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001035511.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9593,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,Pheochromocytoma/paraganglioma syndrome 3",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9699244499206543,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 150,
"aa_ref": "W",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 316,
"cds_end": null,
"cds_length": 453,
"cds_start": 291,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000342751.8",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Trp97*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356952.3",
"strand": true,
"transcript": "ENST00000342751.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 116,
"aa_ref": "W",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 369,
"cdna_start": 207,
"cds_end": null,
"cds_length": 351,
"cds_start": 189,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000513009.5",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Trp63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423260.1",
"strand": true,
"transcript": "ENST00000513009.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 480,
"cds_end": null,
"cds_length": 510,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003001.5",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Gly152Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367975.7",
"protein_coding": true,
"protein_id": "NP_002992.1",
"strand": true,
"transcript": "NM_003001.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 480,
"cds_end": null,
"cds_length": 510,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367975.7",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Gly152Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003001.5",
"protein_coding": true,
"protein_id": "ENSP00000356953.3",
"strand": true,
"transcript": "ENST00000367975.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 135,
"aa_ref": "G",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": 377,
"cds_end": null,
"cds_length": 408,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000432287.6",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Gly118Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390558.2",
"strand": true,
"transcript": "ENST00000432287.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 116,
"aa_ref": "G",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 369,
"cdna_start": 314,
"cds_end": null,
"cds_length": 351,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000392169.6",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Gly99Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376009.2",
"strand": true,
"transcript": "ENST00000392169.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 150,
"aa_ref": "W",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 316,
"cds_end": null,
"cds_length": 453,
"cds_start": 291,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001035511.3",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Trp97*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001030588.1",
"strand": true,
"transcript": "NM_001035511.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 131,
"aa_ref": "W",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": 259,
"cds_end": null,
"cds_length": 396,
"cds_start": 234,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407121.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.234G>A",
"hgvs_p": "p.Trp78*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394050.1",
"strand": true,
"transcript": "NM_001407121.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 116,
"aa_ref": "W",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 214,
"cds_end": null,
"cds_length": 351,
"cds_start": 189,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001278172.3",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Trp63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265101.1",
"strand": true,
"transcript": "NM_001278172.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 113,
"aa_ref": "W",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1576,
"cdna_start": 765,
"cds_end": null,
"cds_length": 342,
"cds_start": 180,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000515731.2",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.180G>A",
"hgvs_p": "p.Trp60*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519353.1",
"strand": true,
"transcript": "ENST00000515731.2",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 209,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 600,
"cds_end": null,
"cds_length": 630,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001407115.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Gly192Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394044.1",
"strand": true,
"transcript": "NM_001407115.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 204,
"aa_ref": "G",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 568,
"cds_end": null,
"cds_length": 615,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893931.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Gly187Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563990.1",
"strand": true,
"transcript": "ENST00000893931.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 179,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1324,
"cdna_start": 510,
"cds_end": null,
"cds_length": 540,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000714063.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Gly162Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519354.1",
"strand": true,
"transcript": "ENST00000714063.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 178,
"aa_ref": "G",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 497,
"cds_end": null,
"cds_length": 537,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893930.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Gly161Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563989.1",
"strand": true,
"transcript": "ENST00000893930.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 166,
"aa_ref": "G",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 467,
"cds_end": null,
"cds_length": 501,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893929.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Gly149Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563988.1",
"strand": true,
"transcript": "ENST00000893929.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 150,
"aa_ref": "G",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 423,
"cds_end": null,
"cds_length": 453,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407116.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Gly133Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394045.1",
"strand": true,
"transcript": "NM_001407116.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 148,
"aa_ref": "G",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 417,
"cds_end": null,
"cds_length": 447,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407117.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Gly131Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394046.1",
"strand": true,
"transcript": "NM_001407117.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 135,
"aa_ref": "G",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 378,
"cds_end": null,
"cds_length": 408,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001035512.3",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Gly118Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001030589.1",
"strand": true,
"transcript": "NM_001035512.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 133,
"aa_ref": "G",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 372,
"cds_end": null,
"cds_length": 402,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407118.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394047.1",
"strand": true,
"transcript": "NM_001407118.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 132,
"aa_ref": "G",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 929,
"cds_end": null,
"cds_length": 399,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407119.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Gly115Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394048.1",
"strand": true,
"transcript": "NM_001407119.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 132,
"aa_ref": "G",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 598,
"cds_end": null,
"cds_length": 399,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001407120.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Gly115Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394049.1",
"strand": true,
"transcript": "NM_001407120.1",
"transcript_support_level": null
},
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}