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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: 10-86921593-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86921593&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM1",
"PM2",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BMPR1A",
"hgnc_id": 1076,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Asp439Asn",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 4,
"score": 3,
"transcript": "NM_001406559.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP6",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1935,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "10",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Juvenile polyposis syndrome",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48067712783813477,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6417,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004329.3",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372037.8",
"protein_coding": true,
"protein_id": "NP_004320.2",
"strand": true,
"transcript": "NM_004329.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6417,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000372037.8",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004329.3",
"protein_coding": true,
"protein_id": "ENSP00000361107.2",
"strand": true,
"transcript": "ENST00000372037.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 557,
"aa_ref": "D",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6492,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406559.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Asp439Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393488.1",
"strand": true,
"transcript": "NM_001406559.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 548,
"aa_ref": "D",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6465,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406560.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Asp430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393489.1",
"strand": true,
"transcript": "NM_001406560.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 548,
"aa_ref": "D",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000926286.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Asp430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596345.1",
"strand": true,
"transcript": "ENST00000926286.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6522,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406561.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393490.1",
"strand": true,
"transcript": "NM_001406561.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6563,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406562.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393491.1",
"strand": true,
"transcript": "NM_001406562.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6814,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406563.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393492.1",
"strand": true,
"transcript": "NM_001406563.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6422,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406564.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393493.1",
"strand": true,
"transcript": "NM_001406564.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6677,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406565.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393494.1",
"strand": true,
"transcript": "NM_001406565.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6317,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406566.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393495.1",
"strand": true,
"transcript": "NM_001406566.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6343,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001406567.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393496.1",
"strand": true,
"transcript": "NM_001406567.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6458,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406568.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393497.1",
"strand": true,
"transcript": "NM_001406568.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6731,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406569.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393498.1",
"strand": true,
"transcript": "NM_001406569.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6546,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406570.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393499.1",
"strand": true,
"transcript": "NM_001406570.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6836,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406571.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393500.1",
"strand": true,
"transcript": "NM_001406571.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6766,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406572.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393501.1",
"strand": true,
"transcript": "NM_001406572.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406573.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393502.1",
"strand": true,
"transcript": "NM_001406573.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6492,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406574.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393503.1",
"strand": true,
"transcript": "NM_001406574.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6621,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406575.1",
"gene_hgnc_id": 1076,
"gene_symbol": "BMPR1A",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Asp414Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393504.1",
"strand": true,
"transcript": "NM_001406575.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 532,
"aa_ref": "D",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6624,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
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