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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: 19-40612201-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40612201&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LTBP4",
"hgnc_id": 6717,
"hgvs_c": "c.2500+9A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001042544.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1448,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "19",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " gastrointestinal and urinary anomalies,Cutis laxa with severe pulmonary,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": null,
"cds_end": null,
"cds_length": 4674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042545.2",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396819.8",
"protein_coding": true,
"protein_id": "NP_001036010.1",
"strand": true,
"transcript": "NM_001042545.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": null,
"cds_end": null,
"cds_length": 4674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396819.8",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042545.2",
"protein_coding": true,
"protein_id": "ENSP00000380031.5",
"strand": true,
"transcript": "ENST00000396819.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1624,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": null,
"cds_end": null,
"cds_length": 4875,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308370.11",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2500+9A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311905.8",
"strand": true,
"transcript": "ENST00000308370.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5032,
"cdna_start": null,
"cds_end": null,
"cds_length": 4764,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000204005.13",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2389+9A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000204005.10",
"strand": true,
"transcript": "ENST00000204005.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": 2018,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601032.5",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.193+9A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470824.1",
"strand": true,
"transcript": "ENST00000601032.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1624,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": null,
"cds_end": null,
"cds_length": 4875,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042544.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2500+9A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036009.1",
"strand": true,
"transcript": "NM_001042544.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5034,
"cdna_start": null,
"cds_end": null,
"cds_length": 4764,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003573.2",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2389+9A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003564.2",
"strand": true,
"transcript": "NM_003573.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": null,
"cds_end": null,
"cds_length": 4698,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969228.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2323+9A>G",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639287.1",
"strand": true,
"transcript": "ENST00000969228.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": null,
"cds_end": null,
"cds_length": 4602,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908835.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578894.1",
"strand": true,
"transcript": "ENST00000908835.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4858,
"cdna_start": null,
"cds_end": null,
"cds_length": 4548,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
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"feature": "ENST00000908836.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2173+9A>G",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578895.1",
"strand": true,
"transcript": "ENST00000908836.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
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"feature": "ENST00000969223.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639282.1",
"strand": true,
"transcript": "ENST00000969223.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000908839.1",
"gene_hgnc_id": 6717,
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"hgvs_c": "c.2299+9A>G",
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"protein_id": "ENSP00000578898.1",
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},
{
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],
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"feature": "ENST00000908838.1",
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"protein_coding": true,
"protein_id": "ENSP00000578897.1",
"strand": true,
"transcript": "ENST00000908838.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000908834.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
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"protein_id": "ENSP00000578893.1",
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"transcript": "ENST00000908834.1",
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},
{
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],
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"feature": "ENST00000969230.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639289.1",
"strand": true,
"transcript": "ENST00000969230.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000908837.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.1936+9A>G",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578896.1",
"strand": true,
"transcript": "ENST00000908837.1",
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},
{
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"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000969221.1",
"gene_hgnc_id": 6717,
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},
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],
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"feature": "ENST00000908840.1",
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},
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],
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"feature": "ENST00000969220.1",
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"strand": true,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000969224.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2299+9A>G",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639283.1",
"strand": true,
"transcript": "ENST00000969224.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
"cds_length": 4101,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000969222.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2056+9A>G",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639281.1",
"strand": true,
"transcript": "ENST00000969222.1",
"transcript_support_level": null
},
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