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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: 4-106235347-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=106235347&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "TBCK",
"hgnc_id": 28261,
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001163435.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " infantile, with psychomotor retardation and characteristic facies 3,Hypotonia,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001163435.3",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394708.7",
"protein_coding": true,
"protein_id": "NP_001156907.2",
"strand": false,
"transcript": "NM_001163435.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000394708.7",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001163435.3",
"protein_coding": true,
"protein_id": "ENSP00000378198.2",
"strand": false,
"transcript": "ENST00000394708.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 854,
"aa_ref": "N",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1253,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000394706.7",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1253delA",
"hgvs_p": "p.Asn418fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378196.3",
"strand": false,
"transcript": "ENST00000394706.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 830,
"aa_ref": "N",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1181,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000361687.8",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1181delA",
"hgvs_p": "p.Asn394fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355338.4",
"strand": false,
"transcript": "ENST00000361687.8",
"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": 3566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000467183.6",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "n.*1009delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421182.1",
"strand": false,
"transcript": "ENST00000467183.6",
"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": 3566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000467183.6",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "n.*1009delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421182.1",
"strand": false,
"transcript": "ENST00000467183.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7818,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001163436.4",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156908.2",
"strand": false,
"transcript": "NM_001163436.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7818,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000273980.10",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273980.4",
"strand": false,
"transcript": "ENST00000273980.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000885939.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555998.1",
"strand": false,
"transcript": "ENST00000885939.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 892,
"aa_ref": "N",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3498,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1367,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000923624.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1367delA",
"hgvs_p": "p.Asn456fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593683.1",
"strand": false,
"transcript": "ENST00000923624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 885,
"aa_ref": "N",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1346,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000885938.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1346delA",
"hgvs_p": "p.Asn449fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555997.1",
"strand": false,
"transcript": "ENST00000885938.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 884,
"aa_ref": "N",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1343,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000885940.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1343delA",
"hgvs_p": "p.Asn448fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555999.1",
"strand": false,
"transcript": "ENST00000885940.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 876,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000885937.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555996.1",
"strand": false,
"transcript": "ENST00000885937.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 872,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967908.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637967.1",
"strand": false,
"transcript": "ENST00000967908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 872,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967910.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637969.1",
"strand": false,
"transcript": "ENST00000967910.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 854,
"aa_ref": "N",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7844,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1253,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001163437.3",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1253delA",
"hgvs_p": "p.Asn418fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156909.2",
"strand": false,
"transcript": "NM_001163437.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 830,
"aa_ref": "N",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7772,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1181,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_033115.5",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1181delA",
"hgvs_p": "p.Asn394fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149106.3",
"strand": false,
"transcript": "NM_033115.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 830,
"aa_ref": "N",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1181,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967909.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1181delA",
"hgvs_p": "p.Asn394fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637968.1",
"strand": false,
"transcript": "ENST00000967909.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 802,
"aa_ref": "N",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1097,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967907.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1097delA",
"hgvs_p": "p.Asn366fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637966.1",
"strand": false,
"transcript": "ENST00000967907.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 798,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000923625.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593684.1",
"strand": false,
"transcript": "ENST00000923625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 768,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1370,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000885941.1",
"gene_hgnc_id": 28261,
"gene_symbol": "TBCK",
"hgvs_c": "c.1370delA",
"hgvs_p": "p.Asn457fs",
"intron_rank": null,
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"phylop100way_score": 5.746,
"pos": 106235347,
"ref": "GT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001163435.3"
}
]
}