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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: 12-51916122-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51916122&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACVRL1",
"hgnc_id": 175,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 23,
"score": 23,
"transcript": "NM_000020.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 23,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9906,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.61,
"chr": "12",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " hereditary hemorrhagic, type 2,Cardiovascular phenotype,Hereditary hemorrhagic telangiectasia,Telangiectasia,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9959716200828552,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000020.3",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000388922.9",
"protein_coding": true,
"protein_id": "NP_000011.2",
"strand": true,
"transcript": "NM_000020.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000388922.9",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000020.3",
"protein_coding": true,
"protein_id": "ENSP00000373574.4",
"strand": true,
"transcript": "ENST00000388922.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 517,
"aa_ref": "E",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000550683.5",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Glu393Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447884.1",
"strand": true,
"transcript": "ENST00000550683.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000551576.6",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455848.2",
"strand": true,
"transcript": "ENST00000551576.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 555,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910202.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580261.1",
"strand": true,
"transcript": "ENST00000910202.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001077401.2",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070869.1",
"strand": true,
"transcript": "NM_001077401.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406487.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393416.1",
"strand": true,
"transcript": "NM_001406487.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4029,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910197.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580256.1",
"strand": true,
"transcript": "ENST00000910197.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4215,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910198.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580257.1",
"strand": true,
"transcript": "ENST00000910198.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910203.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580262.1",
"strand": true,
"transcript": "ENST00000910203.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910205.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580264.1",
"strand": true,
"transcript": "ENST00000910205.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 502,
"aa_ref": "E",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910201.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Glu378Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580260.1",
"strand": true,
"transcript": "ENST00000910201.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 494,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406488.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393417.1",
"strand": true,
"transcript": "NM_001406488.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 494,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406489.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393418.1",
"strand": true,
"transcript": "NM_001406489.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 494,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000552678.2",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457394.2",
"strand": true,
"transcript": "ENST00000552678.2",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 472,
"aa_ref": "E",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1042,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942786.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612845.1",
"strand": true,
"transcript": "ENST00000942786.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 468,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713619.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518916.1",
"strand": true,
"transcript": "ENST00000713619.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 451,
"aa_ref": "E",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1356,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406490.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393419.1",
"strand": true,
"transcript": "NM_001406490.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 413,
"aa_ref": "E",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1242,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547400.6",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Glu289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446724.2",
"strand": true,
"transcript": "ENST00000547400.6",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3865,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1200,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001406491.1",
"gene_hgnc_id": 175,
"gene_symbol": "ACVRL1",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393420.1",
"strand": true,
"transcript": "NM_001406491.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1200,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
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