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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: 8-61613337-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61613337&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ASPH",
"hgnc_id": 757,
"hgvs_c": "c.976+5641G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001413844.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 34483,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5301,
"cdna_start": null,
"cds_end": null,
"cds_length": 2277,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004318.4",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.976+5641G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379454.9",
"protein_coding": true,
"protein_id": "NP_004309.2",
"strand": false,
"transcript": "NM_004318.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5301,
"cdna_start": null,
"cds_end": null,
"cds_length": 2277,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379454.9",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.976+5641G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004318.4",
"protein_coding": true,
"protein_id": "ENSP00000368767.4",
"strand": false,
"transcript": "ENST00000379454.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950798.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.976+5641G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620857.1",
"strand": false,
"transcript": "ENST00000950798.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 785,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5382,
"cdna_start": null,
"cds_end": null,
"cds_length": 2358,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413844.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.976+5641G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400773.1",
"strand": false,
"transcript": "NM_001413844.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 785,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": null,
"cds_end": null,
"cds_length": 2358,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887974.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.976+5641G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558033.1",
"strand": false,
"transcript": "ENST00000887974.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 784,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": null,
"cds_end": null,
"cds_length": 2355,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887966.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.973+5641G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558025.1",
"strand": false,
"transcript": "ENST00000887966.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5346,
"cdna_start": null,
"cds_end": null,
"cds_length": 2322,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413845.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.1021+5641G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400774.1",
"strand": false,
"transcript": "NM_001413845.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": null,
"cds_end": null,
"cds_length": 2322,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887927.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.1021+5641G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557986.1",
"strand": false,
"transcript": "ENST00000887927.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5343,
"cdna_start": null,
"cds_end": null,
"cds_length": 2319,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413846.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.1018+5641G>T",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400775.1",
"strand": false,
"transcript": "NM_001413846.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000887945.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.1018+5641G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558004.1",
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"transcript": "ENST00000887945.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000887960.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558019.1",
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"transcript": "ENST00000887960.1",
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},
{
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"consequences": [
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"feature": "ENST00000950785.1",
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"protein_coding": true,
"protein_id": "ENSP00000620844.1",
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},
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "NM_001413847.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.919+5641G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001400776.1",
"strand": false,
"transcript": "NM_001413847.1",
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},
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],
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"feature": "ENST00000887970.1",
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},
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],
"exon_count": 25,
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"feature": "ENST00000887950.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.916+5641G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558009.1",
"strand": false,
"transcript": "ENST00000887950.1",
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},
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],
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"feature": "NM_001413848.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.979+5641G>T",
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},
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"feature": "ENST00000887973.1",
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},
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],
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"feature": "ENST00000887975.1",
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},
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"consequences": [
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],
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"feature": "NM_001413849.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001400778.1",
"strand": false,
"transcript": "NM_001413849.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "ENST00000950787.1",
"gene_hgnc_id": 757,
"gene_symbol": "ASPH",
"hgvs_c": "c.976+5641G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000620846.1",
"strand": false,
"transcript": "ENST00000950787.1",
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},
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