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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: 1-161356727-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161356727&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SDHC",
"hgnc_id": 10682,
"hgvs_c": "c.412T>G",
"hgvs_p": "p.Ser138Ala",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001407115.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 72,
"alphamissense_prediction": null,
"alphamissense_score": 0.0933,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,Pheochromocytoma/paraganglioma syndrome 3,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27373868227005005,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 169,
"aa_ref": "S",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 317,
"cds_end": null,
"cds_length": 510,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003001.5",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.292T>G",
"hgvs_p": "p.Ser98Ala",
"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": "A",
"aa_end": null,
"aa_length": 169,
"aa_ref": "S",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 317,
"cds_end": null,
"cds_length": 510,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367975.7",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.292T>G",
"hgvs_p": "p.Ser98Ala",
"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": "A",
"aa_end": null,
"aa_length": 135,
"aa_ref": "S",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": 214,
"cds_end": null,
"cds_length": 408,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432287.6",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.190T>G",
"hgvs_p": "p.Ser64Ala",
"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": "A",
"aa_end": null,
"aa_length": 116,
"aa_ref": "S",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 369,
"cdna_start": 151,
"cds_end": null,
"cds_length": 351,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392169.6",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.133T>G",
"hgvs_p": "p.Ser45Ala",
"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": null,
"aa_end": null,
"aa_length": 150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": null,
"cds_end": null,
"cds_length": 453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342751.8",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.242-5602T>G",
"hgvs_p": null,
"intron_rank": 4,
"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": null,
"aa_end": null,
"aa_length": 116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 369,
"cdna_start": null,
"cds_end": null,
"cds_length": 351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513009.5",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.140-5602T>G",
"hgvs_p": null,
"intron_rank": 3,
"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": "A",
"aa_end": null,
"aa_length": 209,
"aa_ref": "S",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 437,
"cds_end": null,
"cds_length": 630,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407115.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.412T>G",
"hgvs_p": "p.Ser138Ala",
"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": "A",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 405,
"cds_end": null,
"cds_length": 615,
"cds_start": 397,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893931.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.397T>G",
"hgvs_p": "p.Ser133Ala",
"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": "A",
"aa_end": null,
"aa_length": 179,
"aa_ref": "S",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1324,
"cdna_start": 347,
"cds_end": null,
"cds_length": 540,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000714063.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.322T>G",
"hgvs_p": "p.Ser108Ala",
"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": "A",
"aa_end": null,
"aa_length": 178,
"aa_ref": "S",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 334,
"cds_end": null,
"cds_length": 537,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893930.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.319T>G",
"hgvs_p": "p.Ser107Ala",
"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": "A",
"aa_end": null,
"aa_length": 166,
"aa_ref": "S",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 304,
"cds_end": null,
"cds_length": 501,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893929.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.283T>G",
"hgvs_p": "p.Ser95Ala",
"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": "A",
"aa_end": null,
"aa_length": 150,
"aa_ref": "S",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 260,
"cds_end": null,
"cds_length": 453,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407116.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.235T>G",
"hgvs_p": "p.Ser79Ala",
"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": "A",
"aa_end": null,
"aa_length": 148,
"aa_ref": "S",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 254,
"cds_end": null,
"cds_length": 447,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407117.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.229T>G",
"hgvs_p": "p.Ser77Ala",
"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": "A",
"aa_end": null,
"aa_length": 135,
"aa_ref": "S",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 215,
"cds_end": null,
"cds_length": 408,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001035512.3",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.190T>G",
"hgvs_p": "p.Ser64Ala",
"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": "A",
"aa_end": null,
"aa_length": 133,
"aa_ref": "S",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 209,
"cds_end": null,
"cds_length": 402,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407118.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Ser62Ala",
"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": "A",
"aa_end": null,
"aa_length": 132,
"aa_ref": "S",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 766,
"cds_end": null,
"cds_length": 399,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407119.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.181T>G",
"hgvs_p": "p.Ser61Ala",
"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": "A",
"aa_end": null,
"aa_length": 132,
"aa_ref": "S",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 435,
"cds_end": null,
"cds_length": 399,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001407120.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.181T>G",
"hgvs_p": "p.Ser61Ala",
"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
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 132,
"aa_ref": "S",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": 327,
"cds_end": null,
"cds_length": 399,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000714064.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.181T>G",
"hgvs_p": "p.Ser61Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519355.1",
"strand": true,
"transcript": "ENST00000714064.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 132,
"aa_ref": "S",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 593,
"cds_end": null,
"cds_length": 399,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000714065.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.181T>G",
"hgvs_p": "p.Ser61Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519356.1",
"strand": true,
"transcript": "ENST00000714065.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 132,
"aa_ref": "S",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 346,
"cds_end": null,
"cds_length": 399,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000714066.1",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.181T>G",
"hgvs_p": "p.Ser61Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519357.1",
"strand": true,
"transcript": "ENST00000714066.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 116,
"aa_ref": "S",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 158,
"cds_end": null,
"cds_length": 351,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001035513.3",
"gene_hgnc_id": 10682,
"gene_symbol": "SDHC",
"hgvs_c": "c.133T>G",
"hgvs_p": "p.Ser45Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001030590.1",
"strand": true,
"transcript": "NM_001035513.3",
"transcript_support_level": null
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