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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: 17-7113665-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7113665&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7113665,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000691900.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "NM_001201352.2",
"protein_id": "NP_001188281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": "ENST00000691900.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "ENST00000691900.1",
"protein_id": "ENSP00000510808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": "NM_001201352.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "ENST00000355035.9",
"protein_id": "ENSP00000347140.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.67+509T>G",
"hgvs_p": null,
"transcript": "ENST00000446679.6",
"protein_id": "ENSP00000405844.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.67+509T>G",
"hgvs_p": null,
"transcript": "ENST00000254850.11",
"protein_id": "ENSP00000254850.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "n.436+509T>G",
"hgvs_p": null,
"transcript": "ENST00000576487.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "NM_001181.4",
"protein_id": "NP_001172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "NM_080912.3",
"protein_id": "NP_550434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.67+509T>G",
"hgvs_p": null,
"transcript": "NM_080914.2",
"protein_id": "NP_550436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.67+509T>G",
"hgvs_p": null,
"transcript": "NM_080913.3",
"protein_id": "NP_550435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
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"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "ENST00000574868.1",
"protein_id": "ENSP00000458835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 406,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ASGR2",
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"hgvs_c": "n.491+509T>G",
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"transcript": "ENST00000450034.7",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"hgvs_c": "c.400+452T>G",
"hgvs_p": null,
"transcript": "XM_011523862.4",
"protein_id": "XP_011522164.2",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.400+452T>G",
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"transcript": "XM_047436089.1",
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},
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],
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"gene_symbol": "ASGR2",
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"transcript": "XM_024450755.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.124+452T>G",
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"transcript": "XM_011523864.4",
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},
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],
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.124+452T>G",
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"transcript": "XM_047436090.1",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.124+452T>G",
"hgvs_p": null,
"transcript": "XM_024450756.2",
"protein_id": "XP_024306524.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.67+509T>G",
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"transcript": "XM_011523863.4",
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],
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],
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},
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"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.67+509T>G",
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"transcript": "XM_006721526.3",
"protein_id": "XP_006721589.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.67+509T>G",
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"transcript": "XM_006721524.3",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "ASGR2",
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"hgvs_c": "c.67+509T>G",
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"transcript": "XM_024450757.2",
"protein_id": "XP_024306525.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
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"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASGR2",
"gene_hgnc_id": 743,
"dbsnp": "rs367953",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.12,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000691900.1",
"gene_symbol": "ASGR2",
"hgnc_id": 743,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.124+452T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}