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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: 19-40611394-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40611394&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "LTBP4",
"hgnc_id": 6717,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Asp752Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001042544.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_score": -16,
"allele_count_reference_population": 16128,
"alphamissense_prediction": null,
"alphamissense_score": 0.6832,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"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:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009231656789779663,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 4674,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001042545.2",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 4674,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000396819.8",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "D",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 4875,
"cds_start": 2254,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000308370.11",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Asp752Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "D",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5032,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 4764,
"cds_start": 2143,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000204005.13",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Asp715Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "D",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 4875,
"cds_start": 2254,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001042544.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Asp752Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "D",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5034,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 4764,
"cds_start": 2143,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_003573.2",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Asp715Asn",
"intron_rank": null,
"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
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 4698,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969228.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Ala685Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639287.1",
"strand": true,
"transcript": "ENST00000969228.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 4602,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000908835.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"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
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1515,
"aa_ref": "D",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 4548,
"cds_start": 1927,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000908836.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Asp643Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578895.1",
"strand": true,
"transcript": "ENST00000908836.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1508,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4818,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 4527,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969223.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639282.1",
"strand": true,
"transcript": "ENST00000969223.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 4437,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000908839.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578898.1",
"strand": true,
"transcript": "ENST00000908839.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1468,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 4407,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000908838.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578897.1",
"strand": true,
"transcript": "ENST00000908838.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4665,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 4344,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000908834.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578893.1",
"strand": true,
"transcript": "ENST00000908834.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 4329,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969230.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639289.1",
"strand": true,
"transcript": "ENST00000969230.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "D",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4526,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 4239,
"cds_start": 1690,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908837.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Asp564Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578896.1",
"strand": true,
"transcript": "ENST00000908837.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "D",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 4218,
"cds_start": 1927,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000969221.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Asp643Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639280.1",
"strand": true,
"transcript": "ENST00000969221.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000908840.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578899.1",
"strand": true,
"transcript": "ENST00000908840.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1395,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 4188,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969220.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639279.1",
"strand": true,
"transcript": "ENST00000969220.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 4149,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969224.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639283.1",
"strand": true,
"transcript": "ENST00000969224.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4354,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 4068,
"cds_start": 2053,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969226.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Asp685Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639285.1",
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}