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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: 9-20885241-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=20885241&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FOCAD",
"hgnc_id": 23377,
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_017794.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 852872,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375567.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338382.11",
"protein_coding": true,
"protein_id": "NP_001362496.1",
"strand": true,
"transcript": "NM_001375567.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000338382.11",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375567.1",
"protein_coding": true,
"protein_id": "ENSP00000344307.6",
"strand": true,
"transcript": "ENST00000338382.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6096,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380249.5",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369599.1",
"strand": true,
"transcript": "ENST00000380249.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000605086.5",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "n.1095+11G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000605086.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6091,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017794.5",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060264.4",
"strand": true,
"transcript": "NM_017794.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6253,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894775.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564834.1",
"strand": true,
"transcript": "ENST00000894775.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6284,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894776.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564835.1",
"strand": true,
"transcript": "ENST00000894776.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5909,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894777.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564836.1",
"strand": true,
"transcript": "ENST00000894777.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6493,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939139.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609198.1",
"strand": true,
"transcript": "ENST00000939139.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6234,
"cdna_start": null,
"cds_end": null,
"cds_length": 5406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939140.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609199.1",
"strand": true,
"transcript": "ENST00000939140.1",
"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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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
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"feature": "ENST00000964697.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634756.1",
"strand": true,
"transcript": "ENST00000964697.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000964698.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634757.1",
"strand": true,
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},
{
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],
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"feature": "ENST00000964699.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634758.1",
"strand": true,
"transcript": "ENST00000964699.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 5361,
"cds_start": null,
"consequences": [
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],
"exon_count": 44,
"exon_rank": null,
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"feature": "ENST00000894779.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564838.1",
"strand": true,
"transcript": "ENST00000894779.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 43,
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"feature": "ENST00000939141.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2625+11G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609200.1",
"strand": true,
"transcript": "ENST00000939141.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375568.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2520+11G>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362497.1",
"strand": true,
"transcript": "NM_001375568.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 43,
"exon_rank": null,
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"feature": "NM_001375570.1",
"gene_hgnc_id": 23377,
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"hgvs_c": "c.2520+11G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_id": "NP_001362499.1",
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"transcript": "NM_001375570.1",
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},
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],
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"feature": "ENST00000894780.1",
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000894783.1",
"gene_hgnc_id": 23377,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
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"feature": "ENST00000939137.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2520+11G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609196.1",
"strand": true,
"transcript": "ENST00000939137.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5727,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939142.1",
"gene_hgnc_id": 23377,
"gene_symbol": "FOCAD",
"hgvs_c": "c.2520+11G>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609201.1",
"strand": true,
"transcript": "ENST00000939142.1",
"transcript_support_level": null
},
{
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}