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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: 18-36156574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36156574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELP2",
"hgnc_id": 18248,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"inheritance_mode": "AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001242875.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_score": 9,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.9735,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "18",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal recessive 58,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9663909673690796,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8432,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_018255.4",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358232.11",
"protein_coding": true,
"protein_id": "NP_060725.1",
"strand": true,
"transcript": "NM_018255.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8432,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000358232.11",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018255.4",
"protein_coding": true,
"protein_id": "ENSP00000350967.6",
"strand": true,
"transcript": "ENST00000358232.11",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000423854.6",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391202.2",
"strand": true,
"transcript": "ENST00000423854.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000542824.5",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443800.1",
"strand": true,
"transcript": "ENST00000542824.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000539560.5",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "n.1384C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000443555.1",
"strand": true,
"transcript": "ENST00000539560.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867817.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537876.1",
"strand": true,
"transcript": "ENST00000867817.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8627,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001242875.3",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229804.1",
"strand": true,
"transcript": "NM_001242875.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000442325.6",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414851.2",
"strand": true,
"transcript": "ENST00000442325.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 889,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5977,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867807.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537866.1",
"strand": true,
"transcript": "ENST00000867807.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965732.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635791.1",
"strand": true,
"transcript": "ENST00000965732.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 865,
"aa_ref": "R",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8549,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001324466.2",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1501C>T",
"hgvs_p": "p.Arg501Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311395.1",
"strand": true,
"transcript": "NM_001324466.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 865,
"aa_ref": "R",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000867812.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1501C>T",
"hgvs_p": "p.Arg501Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537871.1",
"strand": true,
"transcript": "ENST00000867812.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 853,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965733.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1465C>T",
"hgvs_p": "p.Arg489Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635792.1",
"strand": true,
"transcript": "ENST00000965733.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000867816.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537875.1",
"strand": true,
"transcript": "ENST00000867816.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000867822.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537881.1",
"strand": true,
"transcript": "ENST00000867822.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 845,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965728.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635787.1",
"strand": true,
"transcript": "ENST00000965728.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 841,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5849,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000867805.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537864.1",
"strand": true,
"transcript": "ENST00000867805.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939573.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609632.1",
"strand": true,
"transcript": "ENST00000939573.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 829,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867821.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537880.1",
"strand": true,
"transcript": "ENST00000867821.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5788,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000867806.1",
"gene_hgnc_id": 18248,
"gene_symbol": "ELP2",
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537865.1",
"strand": true,
"transcript": "ENST00000867806.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 22,
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}
],
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"phenotype_combined": "Inborn genetic diseases|not provided|Intellectual disability, autosomal recessive 58",
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}
]
}