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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: 12-13088018-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=13088018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GSG1",
"hgnc_id": 19716,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001367363.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FAM234B",
"hgnc_id": 29288,
"hgvs_c": "c.970+11875C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000537625.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.7308,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "12",
"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": 0.12976419925689697,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1089,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001080555.4",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651961.1",
"protein_coding": true,
"protein_id": "NP_001074024.1",
"strand": false,
"transcript": "NM_001080555.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1089,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000651961.1",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080555.4",
"protein_coding": true,
"protein_id": "ENSP00000498528.1",
"strand": false,
"transcript": "ENST00000651961.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 339,
"aa_ref": "G",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1020,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432710.7",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Gly152Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405032.2",
"strand": false,
"transcript": "ENST00000432710.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 483,
"cds_end": null,
"cds_length": 981,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000337630.10",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336816.6",
"strand": false,
"transcript": "ENST00000337630.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 780,
"cds_end": null,
"cds_length": 966,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000351606.10",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336857.6",
"strand": false,
"transcript": "ENST00000351606.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 738,
"cds_end": null,
"cds_length": 858,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396302.7",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379596.3",
"strand": false,
"transcript": "ENST00000396302.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537625.1",
"gene_hgnc_id": 29288,
"gene_symbol": "FAM234B",
"hgvs_c": "c.970+11875C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437974.1",
"strand": true,
"transcript": "ENST00000537625.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": null,
"cds_end": null,
"cds_length": 897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537302.5",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.443-755G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441718.1",
"strand": false,
"transcript": "ENST00000537302.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 402,
"aa_ref": "G",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 798,
"cds_end": null,
"cds_length": 1209,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367363.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354292.1",
"strand": false,
"transcript": "NM_001367363.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 386,
"aa_ref": "G",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1161,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367359.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354288.1",
"strand": false,
"transcript": "NM_001367359.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 371,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1116,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367362.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354291.1",
"strand": false,
"transcript": "NM_001367362.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1065,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367358.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354287.1",
"strand": false,
"transcript": "NM_001367358.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 349,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1050,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001368007.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354936.1",
"strand": false,
"transcript": "NM_001368007.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1038,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367361.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354290.1",
"strand": false,
"transcript": "NM_001367361.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 339,
"aa_ref": "G",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1020,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001206842.3",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Gly152Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193771.1",
"strand": false,
"transcript": "NM_001206842.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 483,
"cds_end": null,
"cds_length": 981,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_153823.5",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_722545.2",
"strand": false,
"transcript": "NM_153823.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 802,
"cds_end": null,
"cds_length": 966,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001080554.4",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001074023.1",
"strand": false,
"transcript": "NM_001080554.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 733,
"cds_end": null,
"cds_length": 897,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367364.2",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354293.1",
"strand": false,
"transcript": "NM_001367364.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 708,
"cds_end": null,
"cds_length": 897,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000545401.6",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445884.2",
"strand": false,
"transcript": "ENST00000545401.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 607,
"cds_end": null,
"cds_length": 858,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_031289.5",
"gene_hgnc_id": 19716,
"gene_symbol": "GSG1",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112579.2",
"strand": false,
"transcript": "NM_031289.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 219,
"aa_ref": "G",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": 766,
"cds_end": null,
"cds_length": 661,
"cds_start": 595,
"consequences": [
"missense_variant"
],
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