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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: 17-7224966-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7224966&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2_Supporting",
"PM3",
"PS3_Supporting",
"PP4_Moderate",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001270447.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2_Supporting,PM3,PS3_Supporting,PP4_Moderate,PP3",
"acmg_score": 7,
"allele_count_reference_population": 43,
"alphamissense_prediction": null,
"alphamissense_score": 0.471,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "17",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Very long chain acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:11 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9152425527572632,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_000018.4",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.Arg613Trp",
"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": "W",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000356839.10",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.Arg613Trp",
"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": "W",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1893,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000350303.9",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Arg591Trp",
"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": "W",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001270447.2",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"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": "W",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000543245.6",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Trp",
"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": "W",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1879,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000945302.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Arg627Trp",
"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": "W",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883761.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1867C>T",
"hgvs_p": "p.Arg623Trp",
"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": "W",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000945308.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1861C>T",
"hgvs_p": "p.Arg621Trp",
"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": "W",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883770.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Arg619Trp",
"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": "W",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000916066.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.Arg613Trp",
"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": "W",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000916068.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.Arg613Trp",
"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": "W",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883764.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Arg612Trp",
"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": "W",
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"aa_length": 652,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1828,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883757.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.Arg610Trp",
"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": "W",
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"aa_length": 652,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1828,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000945291.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.Arg610Trp",
"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": "W",
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"aa_length": 651,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000945298.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Trp",
"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": "W",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000945297.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1822C>T",
"hgvs_p": "p.Arg608Trp",
"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": "W",
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"aa_length": 647,
"aa_ref": "R",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883762.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553821.1",
"strand": true,
"transcript": "ENST00000883762.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
"cds_length": 1944,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883763.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553822.1",
"strand": true,
"transcript": "ENST00000883763.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 1927,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000945292.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"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": "W",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 1900,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000945303.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Arg604Trp",
"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": "W",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1804,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000945299.1",
"gene_hgnc_id": 92,
"gene_symbol": "ACADVL",
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}