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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: 21-32578757-GT-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32578757&ref=GT&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"hgvs_c": "c.956_957delACinsGA",
"hgvs_p": "p.His319Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001350338.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TCP10L",
"hgnc_id": 11657,
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_144659.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 215,
"aa_ref": "H",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 539,
"cds_end": null,
"cds_length": 648,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144659.7",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300258.8",
"protein_coding": true,
"protein_id": "NP_653260.1",
"strand": false,
"transcript": "NM_144659.7",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 215,
"aa_ref": "H",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 539,
"cds_end": null,
"cds_length": 648,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000300258.8",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144659.7",
"protein_coding": true,
"protein_id": "ENSP00000300258.3",
"strand": false,
"transcript": "ENST00000300258.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 389,
"aa_ref": "H",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1170,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673807.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.956_957delACinsGA",
"hgvs_p": "p.His319Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501088.1",
"strand": false,
"transcript": "ENST00000673807.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 389,
"aa_ref": "H",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4357,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1170,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350338.2",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.956_957delACinsGA",
"hgvs_p": "p.His319Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337267.1",
"strand": false,
"transcript": "NM_001350338.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 373,
"aa_ref": "H",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1122,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673985.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.956_957delACinsGA",
"hgvs_p": "p.His319Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500984.1",
"strand": false,
"transcript": "ENST00000673985.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "H",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 954,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673945.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.740_741delACinsGA",
"hgvs_p": "p.His247Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501020.1",
"strand": false,
"transcript": "ENST00000673945.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 252,
"aa_ref": "H",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 669,
"cds_end": null,
"cds_length": 759,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553001.2",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.668_669delACinsGA",
"hgvs_p": "p.His223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446874.2",
"strand": false,
"transcript": "ENST00000553001.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 215,
"aa_ref": "H",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 898,
"cdna_start": 570,
"cds_end": null,
"cds_length": 648,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674156.1",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501209.1",
"strand": false,
"transcript": "ENST00000674156.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 215,
"aa_ref": "H",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 648,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897540.1",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567599.1",
"strand": false,
"transcript": "ENST00000897540.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 215,
"aa_ref": "H",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 735,
"cds_end": null,
"cds_length": 648,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897541.1",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567600.1",
"strand": false,
"transcript": "ENST00000897541.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 190,
"aa_ref": "H",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 635,
"cdna_start": 497,
"cds_end": null,
"cds_length": 573,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582575.2",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.434_435delACinsGA",
"hgvs_p": "p.His145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463050.2",
"strand": false,
"transcript": "ENST00000582575.2",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 129,
"aa_ref": "H",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": 416,
"cds_end": null,
"cds_length": 390,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000472557.6",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.176_177delACinsGA",
"hgvs_p": "p.His59Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476481.1",
"strand": false,
"transcript": "ENST00000472557.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 88,
"aa_ref": "H",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1368,
"cdna_start": 394,
"cds_end": null,
"cds_length": 267,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673699.1",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "c.176_177delACinsGA",
"hgvs_p": "p.His59Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501220.1",
"strand": false,
"transcript": "ENST00000673699.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000491828.5",
"gene_hgnc_id": 11657,
"gene_symbol": "TCP10L",
"hgvs_c": "n.309_310delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491828.5",
"transcript_support_level": 3
},
{
"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": 2261,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000673072.2",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "n.956_957delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500800.2",
"strand": false,
"transcript": "ENST00000673072.2",
"transcript_support_level": null
},
{
"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": 4127,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000673633.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "n.956_957delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501272.1",
"strand": false,
"transcript": "ENST00000673633.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673672.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "n.731_732delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000673672.1",
"transcript_support_level": null
},
{
"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": 2162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673694.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "n.482_483delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501228.1",
"strand": false,
"transcript": "ENST00000673694.1",
"transcript_support_level": null
},
{
"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": 3226,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000673722.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "n.956_957delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501143.1",
"strand": false,
"transcript": "ENST00000673722.1",
"transcript_support_level": null
},
{
"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": 3316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000673727.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "n.956_957delACinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501061.1",
"strand": false,
"transcript": "ENST00000673727.1",
"transcript_support_level": null
},
{
"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": 1369,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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