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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: 4-73141521-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73141521&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ANKRD17",
"hgnc_id": 23575,
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_032217.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 19669,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10797,
"cdna_start": null,
"cds_end": null,
"cds_length": 7812,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032217.5",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358602.9",
"protein_coding": true,
"protein_id": "NP_115593.3",
"strand": false,
"transcript": "NM_032217.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10797,
"cdna_start": null,
"cds_end": null,
"cds_length": 7812,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358602.9",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032217.5",
"protein_coding": true,
"protein_id": "ENSP00000351416.4",
"strand": false,
"transcript": "ENST00000358602.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8105,
"cdna_start": null,
"cds_end": null,
"cds_length": 7473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509867.6",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.1993+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427151.2",
"strand": false,
"transcript": "ENST00000509867.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8456,
"cdna_start": null,
"cds_end": null,
"cds_length": 7461,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558247.5",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.1984+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453434.1",
"strand": false,
"transcript": "ENST00000558247.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2602,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10794,
"cdna_start": null,
"cds_end": null,
"cds_length": 7809,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015574.2",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056389.1",
"strand": false,
"transcript": "NM_015574.2",
"transcript_support_level": null
},
{
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"aa_length": 2576,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9347,
"cdna_start": null,
"cds_end": null,
"cds_length": 7731,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914560.1",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584619.1",
"strand": false,
"transcript": "ENST00000914560.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9196,
"cdna_start": null,
"cds_end": null,
"cds_length": 7614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914561.1",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584620.1",
"strand": false,
"transcript": "ENST00000914561.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10358,
"cdna_start": null,
"cds_end": null,
"cds_length": 7473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286771.3",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.1993+220T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273700.1",
"strand": false,
"transcript": "NM_001286771.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8173,
"cdna_start": null,
"cds_end": null,
"cds_length": 7470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914562.1",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584621.1",
"strand": false,
"transcript": "ENST00000914562.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 7059,
"cds_start": null,
"consequences": [
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],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198889.3",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.2332+220T>C",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_942592.1",
"strand": false,
"transcript": "NM_198889.3",
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},
{
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"consequences": [
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],
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"feature": "ENST00000330838.10",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000332265.6",
"strand": false,
"transcript": "ENST00000330838.10",
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},
{
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"consequences": [
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],
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"feature": "ENST00000914559.1",
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"protein_coding": true,
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},
{
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"protein_id": "ENSP00000453294.1",
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"consequences": [
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],
"exon_count": 33,
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"feature": "XM_047450038.1",
"gene_hgnc_id": 23575,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305994.1",
"strand": false,
"transcript": "XM_047450038.1",
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},
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],
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},
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"consequences": [
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],
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"feature": "XM_047450039.1",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.1897+220T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305995.1",
"strand": false,
"transcript": "XM_047450039.1",
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},
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],
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"feature": "XM_047450040.1",
"gene_hgnc_id": 23575,
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"hgvs_c": "c.1669+220T>C",
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},
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],
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"feature": "XM_005265671.5",
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},
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"consequences": [
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],
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"feature": "XM_017008012.2",
"gene_hgnc_id": 23575,
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"hgvs_c": "c.1993+220T>C",
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"protein_coding": true,
"protein_id": "XP_016863501.1",
"strand": false,
"transcript": "XM_017008012.2",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 33,
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"feature": "XM_017008013.2",
"gene_hgnc_id": 23575,
"gene_symbol": "ANKRD17",
"hgvs_c": "c.1993+220T>C",
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"protein_coding": true,
"protein_id": "XP_016863502.1",
"strand": false,
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},
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