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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: 2-26191522-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26191522&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HADHA",
"hgnc_id": 4801,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000182.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GAREM2",
"hgnc_id": 27172,
"hgvs_c": "c.1683+4207C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "XM_011532567.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.9956,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Mitochondrial trifunctional protein deficiency,Mitochondrial trifunctional protein deficiency 1,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:2 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9397430419921875,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 763,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_000182.5",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380649.8",
"protein_coding": true,
"protein_id": "NP_000173.2",
"strand": false,
"transcript": "NM_000182.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 763,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000380649.8",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000182.5",
"protein_coding": true,
"protein_id": "ENSP00000370023.3",
"strand": false,
"transcript": "ENST00000380649.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 818,
"aa_ref": "G",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2272,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942149.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2272G>A",
"hgvs_p": "p.Gly758Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612208.1",
"strand": false,
"transcript": "ENST00000942149.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 795,
"aa_ref": "G",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000942146.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Gly735Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612205.1",
"strand": false,
"transcript": "ENST00000942146.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000492433.2",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438039.2",
"strand": false,
"transcript": "ENST00000492433.2",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 790,
"aa_ref": "G",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859324.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Gly730Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529383.1",
"strand": false,
"transcript": "ENST00000859324.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2182,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000942150.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Gly728Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612209.1",
"strand": false,
"transcript": "ENST00000942150.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 780,
"aa_ref": "G",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2343,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000859333.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Gly720Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529392.1",
"strand": false,
"transcript": "ENST00000859333.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942153.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Gly715Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612212.1",
"strand": false,
"transcript": "ENST00000942153.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 769,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000942145.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612204.1",
"strand": false,
"transcript": "ENST00000942145.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 768,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859325.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2122G>A",
"hgvs_p": "p.Gly708Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529384.1",
"strand": false,
"transcript": "ENST00000859325.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 763,
"aa_ref": "G",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942141.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612200.1",
"strand": false,
"transcript": "ENST00000942141.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 763,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000942144.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612203.1",
"strand": false,
"transcript": "ENST00000942144.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 761,
"aa_ref": "G",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925541.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Gly701Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595600.1",
"strand": false,
"transcript": "ENST00000925541.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 761,
"aa_ref": "G",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000942142.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Gly701Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612201.1",
"strand": false,
"transcript": "ENST00000942142.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 760,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859327.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2098G>A",
"hgvs_p": "p.Gly700Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529386.1",
"strand": false,
"transcript": "ENST00000859327.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 760,
"aa_ref": "G",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000942147.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2098G>A",
"hgvs_p": "p.Gly700Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612206.1",
"strand": false,
"transcript": "ENST00000942147.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 751,
"aa_ref": "G",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2071,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000859332.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Gly691Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529391.1",
"strand": false,
"transcript": "ENST00000859332.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 749,
"aa_ref": "G",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000942143.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Gly689Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612202.1",
"strand": false,
"transcript": "ENST00000942143.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 740,
"aa_ref": "G",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2223,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000859331.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Gly680Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529390.1",
"strand": false,
"transcript": "ENST00000859331.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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