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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: 3-159764623-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=159764623&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IQCJ-SCHIP1",
"hgnc_id": 38842,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001197113.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCHIP1",
"hgnc_id": 15678,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_014575.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": 0.0999,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10831758379936218,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1464,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014575.4",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000638749.2",
"protein_coding": true,
"protein_id": "NP_055390.1",
"strand": true,
"transcript": "NM_014575.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1464,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638749.2",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014575.4",
"protein_coding": true,
"protein_id": "ENSP00000491030.1",
"strand": true,
"transcript": "ENST00000638749.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1692,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000485419.7",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420182.1",
"strand": true,
"transcript": "ENST00000485419.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 310,
"cds_end": null,
"cds_length": 1425,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000412423.8",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400942.2",
"strand": true,
"transcript": "ENST00000412423.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 451,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1356,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460298.3",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417305.3",
"strand": true,
"transcript": "ENST00000460298.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1692,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001197113.2",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Pro158Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184042.1",
"strand": true,
"transcript": "NM_001197113.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1611,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001197114.2",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184043.1",
"strand": true,
"transcript": "NM_001197114.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1611,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001414414.1",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401343.1",
"strand": true,
"transcript": "NM_001414414.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1611,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000476809.7",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Pro131Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418692.1",
"strand": true,
"transcript": "ENST00000476809.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1455,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414415.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401344.1",
"strand": true,
"transcript": "NM_001414415.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1425,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001197107.2",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184036.1",
"strand": true,
"transcript": "NM_001197107.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 274,
"cds_end": null,
"cds_length": 1410,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414416.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401345.1",
"strand": true,
"transcript": "NM_001414416.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 227,
"cds_end": null,
"cds_length": 1404,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414417.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Pro62Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401346.1",
"strand": true,
"transcript": "NM_001414417.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 232,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394282.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381211.1",
"strand": true,
"transcript": "NM_001394282.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394283.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381212.1",
"strand": true,
"transcript": "NM_001394283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394284.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381213.1",
"strand": true,
"transcript": "NM_001394284.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 211,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394285.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381214.1",
"strand": true,
"transcript": "NM_001394285.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394286.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381215.1",
"strand": true,
"transcript": "NM_001394286.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414418.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401347.1",
"strand": true,
"transcript": "NM_001414418.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001414419.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Pro55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401348.1",
"strand": true,
"transcript": "NM_001414419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1383,
"cds_start": 163,
"consequences": [
"missense_variant"
],
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.079,
"pos": 159764623,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.033,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001197113.2"
}
]
}