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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: 11-111825716-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111825716&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ALG9",
"hgnc_id": 15672,
"hgvs_c": "c.1602+10449A>G",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001441203.1",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258529",
"hgnc_id": null,
"hgvs_c": "c.2280+10449A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000622211.4",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ALG9-IT1",
"hgnc_id": 41409,
"hgvs_c": "n.358+3139A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000531305.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 97005,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "ALG9 congenital disorder of glycosylation",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 618,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": null,
"cds_end": null,
"cds_length": 1857,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024740.2",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1602+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000616540.5",
"protein_coding": true,
"protein_id": "NP_079016.2",
"strand": false,
"transcript": "NM_024740.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 618,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": null,
"cds_end": null,
"cds_length": 1857,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616540.5",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1602+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024740.2",
"protein_coding": true,
"protein_id": "ENSP00000482437.1",
"strand": false,
"transcript": "ENST00000616540.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 844,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": null,
"cds_end": null,
"cds_length": 2535,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000622211.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258529",
"hgvs_c": "c.2280+10449A>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482396.1",
"strand": false,
"transcript": "ENST00000622211.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 611,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": null,
"cds_end": null,
"cds_length": 1836,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614444.4",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1581+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484200.1",
"strand": false,
"transcript": "ENST00000614444.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 440,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": null,
"cds_end": null,
"cds_length": 1323,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398006.6",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1068+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381090.2",
"strand": false,
"transcript": "ENST00000398006.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 629,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5851,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441203.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1602+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428132.1",
"strand": false,
"transcript": "NM_001441203.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352417.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1581+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339346.1",
"strand": false,
"transcript": "NM_001352417.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6137,
"cdna_start": null,
"cds_end": null,
"cds_length": 1836,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077690.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1581+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001071158.1",
"strand": false,
"transcript": "NM_001077690.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000928987.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1581+10449A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000599046.1",
"strand": false,
"transcript": "ENST00000928987.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
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"feature": "ENST00000943100.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1575+10449A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613159.1",
"strand": false,
"transcript": "ENST00000943100.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001441204.1",
"gene_hgnc_id": 15672,
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"protein_id": "NP_001428133.1",
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},
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],
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"feature": "NM_001441205.1",
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"strand": false,
"transcript": "NM_001441205.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001441206.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1479+10449A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001428135.1",
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},
{
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],
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"feature": "ENST00000857227.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000527286.1",
"strand": false,
"transcript": "ENST00000857227.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001352418.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1458+10449A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001339347.1",
"strand": false,
"transcript": "NM_001352418.1",
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},
{
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"cds_start": null,
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000857228.1",
"gene_hgnc_id": 15672,
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},
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],
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"feature": "ENST00000857229.1",
"gene_hgnc_id": 15672,
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},
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"consequences": [
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],
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"feature": "NM_001352419.1",
"gene_hgnc_id": 15672,
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"hgvs_c": "c.1089+10449A>G",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
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"feature": "NM_001352415.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1068+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339344.1",
"strand": false,
"transcript": "NM_001352415.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352416.1",
"gene_hgnc_id": 15672,
"gene_symbol": "ALG9",
"hgvs_c": "c.1068+10449A>G",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001339345.1",
"strand": false,
"transcript": "NM_001352416.1",
"transcript_support_level": null
},
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}