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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: 3-159764729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=159764729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IQCJ-SCHIP1",
"hgnc_id": 38842,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001197113.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCHIP1",
"hgnc_id": 15678,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ser117Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014575.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0704,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"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": 0.06204447150230408,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 487,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1464,
"cds_start": 350,
"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.350C>T",
"hgvs_p": "p.Ser117Phe",
"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": "F",
"aa_end": null,
"aa_length": 487,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1464,
"cds_start": 350,
"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.350C>T",
"hgvs_p": "p.Ser117Phe",
"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": "F",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1692,
"cds_start": 578,
"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.578C>T",
"hgvs_p": "p.Ser193Phe",
"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": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1425,
"cds_start": 350,
"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.350C>T",
"hgvs_p": "p.Ser117Phe",
"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": "F",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1356,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 563,
"aa_ref": "S",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1692,
"cds_start": 578,
"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.578C>T",
"hgvs_p": "p.Ser193Phe",
"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": "F",
"aa_end": null,
"aa_length": 536,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1611,
"cds_start": 497,
"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.497C>T",
"hgvs_p": "p.Ser166Phe",
"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": "F",
"aa_end": null,
"aa_length": 536,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1611,
"cds_start": 497,
"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.497C>T",
"hgvs_p": "p.Ser166Phe",
"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": "F",
"aa_end": null,
"aa_length": 536,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1611,
"cds_start": 497,
"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.497C>T",
"hgvs_p": "p.Ser166Phe",
"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": "F",
"aa_end": null,
"aa_length": 484,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1455,
"cds_start": 341,
"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.341C>T",
"hgvs_p": "p.Ser114Phe",
"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": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1425,
"cds_start": 350,
"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.350C>T",
"hgvs_p": "p.Ser117Phe",
"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": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "S",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1410,
"cds_start": 296,
"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.296C>T",
"hgvs_p": "p.Ser99Phe",
"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": "F",
"aa_end": null,
"aa_length": 467,
"aa_ref": "S",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 333,
"cds_end": null,
"cds_length": 1404,
"cds_start": 290,
"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.290C>T",
"hgvs_p": "p.Ser97Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"intron_rank": null,
"intron_rank_end": null,
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1383,
"cds_start": 269,
"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.269C>T",
"hgvs_p": "p.Ser90Phe",
"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": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "S",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 327,
"cds_end": null,
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