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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: 17-7223992-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7223992&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2_Supporting",
"PM3",
"PVS1"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001270447.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2_Supporting,PM3,PVS1",
"acmg_score": 11,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Very long chain acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:6",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000018.4",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356839.10",
"protein_coding": true,
"protein_id": "NP_000009.1",
"strand": true,
"transcript": "NM_000018.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000356839.10",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000018.4",
"protein_coding": true,
"protein_id": "ENSP00000349297.5",
"strand": true,
"transcript": "ENST00000356839.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1291,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000350303.9",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344152.5",
"strand": true,
"transcript": "ENST00000350303.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1426,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001270447.2",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257376.1",
"strand": true,
"transcript": "NM_001270447.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1426,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000543245.6",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438689.2",
"strand": true,
"transcript": "ENST00000543245.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1399,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945302.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Arg467*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615361.1",
"strand": true,
"transcript": "ENST00000945302.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1387,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000883761.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553820.1",
"strand": true,
"transcript": "ENST00000883761.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1381,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945308.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615367.1",
"strand": true,
"transcript": "ENST00000945308.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1375,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000883770.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Arg459*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553829.1",
"strand": true,
"transcript": "ENST00000883770.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000916066.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586125.1",
"strand": true,
"transcript": "ENST00000916066.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000916068.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586127.1",
"strand": true,
"transcript": "ENST00000916068.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1354,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000883764.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553823.1",
"strand": true,
"transcript": "ENST00000883764.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000883757.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553816.1",
"strand": true,
"transcript": "ENST00000883757.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1348,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945291.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Arg450*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615350.1",
"strand": true,
"transcript": "ENST00000945291.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945298.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615357.1",
"strand": true,
"transcript": "ENST00000945298.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1342,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945297.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615356.1",
"strand": true,
"transcript": "ENST00000945297.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000883762.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553821.1",
"strand": true,
"transcript": "ENST00000883762.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000883763.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553822.1",
"strand": true,
"transcript": "ENST00000883763.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945292.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615351.1",
"strand": true,
"transcript": "ENST00000945292.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1330,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945303.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615362.1",
"strand": true,
"transcript": "ENST00000945303.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1324,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945299.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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