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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: 5-240450-TCG-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=240450&ref=TCG&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SDHA",
"hgnc_id": 10680,
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_004168.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"hgvs_c": "n.*258_*260delTCGinsAGT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000651543.1",
"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": "AGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": "S",
"aa_end": null,
"aa_length": 664,
"aa_ref": "S",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1525,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004168.4",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264932.11",
"protein_coding": true,
"protein_id": "NP_004159.2",
"strand": true,
"transcript": "NM_004168.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 664,
"aa_ref": "S",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1525,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264932.11",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004168.4",
"protein_coding": true,
"protein_id": "ENSP00000264932.6",
"strand": true,
"transcript": "ENST00000264932.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*258_*260delTCGinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499215.1",
"strand": true,
"transcript": "ENST00000651543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*258_*260delTCGinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499215.1",
"strand": true,
"transcript": "ENST00000651543.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 726,
"aa_ref": "S",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1525,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874235.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544294.1",
"strand": true,
"transcript": "ENST00000874235.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "S",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1678,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952715.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1678_1680delTCGinsAGT",
"hgvs_p": "p.561",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622774.1",
"strand": true,
"transcript": "ENST00000952715.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 682,
"aa_ref": "S",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1579,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874242.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1579_1581delTCGinsAGT",
"hgvs_p": "p.528",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544301.1",
"strand": true,
"transcript": "ENST00000874242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 681,
"aa_ref": "S",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1525,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952713.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622772.1",
"strand": true,
"transcript": "ENST00000952713.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 673,
"aa_ref": "S",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1552,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952712.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1552_1554delTCGinsAGT",
"hgvs_p": "p.519",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622771.1",
"strand": true,
"transcript": "ENST00000952712.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "S",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1525,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874248.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544307.1",
"strand": true,
"transcript": "ENST00000874248.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 666,
"aa_ref": "S",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1531,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952708.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1531_1533delTCGinsAGT",
"hgvs_p": "p.512",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622767.1",
"strand": true,
"transcript": "ENST00000952708.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 663,
"aa_ref": "S",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1522,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874234.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1522_1524delTCGinsAGT",
"hgvs_p": "p.509",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544293.1",
"strand": true,
"transcript": "ENST00000874234.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 663,
"aa_ref": "S",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1522,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952707.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1522_1524delTCGinsAGT",
"hgvs_p": "p.509",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622766.1",
"strand": true,
"transcript": "ENST00000952707.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 656,
"aa_ref": "S",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1501,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874246.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1501_1503delTCGinsAGT",
"hgvs_p": "p.502",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544305.1",
"strand": true,
"transcript": "ENST00000874246.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 653,
"aa_ref": "S",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1492,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874244.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1492_1494delTCGinsAGT",
"hgvs_p": "p.499",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544303.1",
"strand": true,
"transcript": "ENST00000874244.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 653,
"aa_ref": "S",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1492,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952709.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1492_1494delTCGinsAGT",
"hgvs_p": "p.499",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622768.1",
"strand": true,
"transcript": "ENST00000952709.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 649,
"aa_ref": "S",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1480,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952716.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1480_1482delTCGinsAGT",
"hgvs_p": "p.495",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622775.1",
"strand": true,
"transcript": "ENST00000952716.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 647,
"aa_ref": "S",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1474,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952711.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1474_1476delTCGinsAGT",
"hgvs_p": "p.493",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622770.1",
"strand": true,
"transcript": "ENST00000952711.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1525,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874236.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1525_1527delTCGinsAGT",
"hgvs_p": "p.510",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544295.1",
"strand": true,
"transcript": "ENST00000874236.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "S",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1381,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001294332.2",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1381_1383delTCGinsAGT",
"hgvs_p": "p.462",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001281261.1",
"strand": true,
"transcript": "NM_001294332.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "S",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1419,
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]
}