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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: 16-20663170-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20663170&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20663170,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000520010.6",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.913-1297C>T",
"hgvs_p": null,
"transcript": "NM_001318890.3",
"protein_id": "NP_001305819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": "ENST00000520010.6",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.913-1297C>T",
"hgvs_p": null,
"transcript": "ENST00000520010.6",
"protein_id": "ENSP00000428047.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": "NM_001318890.3",
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.913-1297C>T",
"hgvs_p": null,
"transcript": "ENST00000307493.8",
"protein_id": "ENSP00000301956.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2051,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "n.*359-1297C>T",
"hgvs_p": null,
"transcript": "ENST00000519745.5",
"protein_id": "ENSP00000428650.1",
"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": 1568,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.913-1297C>T",
"hgvs_p": null,
"transcript": "NM_052956.3",
"protein_id": "NP_443188.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"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": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.28-1297C>T",
"hgvs_p": null,
"transcript": "ENST00000524149.5",
"protein_id": "ENSP00000428098.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-190+52860G>A",
"hgvs_p": null,
"transcript": "ENST00000568235.5",
"protein_id": "ENSP00000457003.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "n.339-1297C>T",
"hgvs_p": null,
"transcript": "ENST00000519031.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1839,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "n.1042-1297C>T",
"hgvs_p": null,
"transcript": "NR_134918.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
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"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.913-1297C>T",
"hgvs_p": null,
"transcript": "XM_006721016.4",
"protein_id": "XP_006721079.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 1632,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.913-1297C>T",
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"transcript": "XM_006721017.4",
"protein_id": "XP_006721080.1",
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},
{
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"consequences": [
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],
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},
{
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],
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"gene_symbol": "ACSM1",
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},
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],
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"gene_symbol": "ACSM1",
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],
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},
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],
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"gene_symbol": "ACSM1",
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"hgvs_c": "c.913-1297C>T",
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],
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"hgvs_c": "c.316-1297C>T",
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"transcript": "XM_011545731.3",
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},
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],
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],
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"hgvs_c": "c.913-1297C>T",
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"transcript": "XM_017022914.3",
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},
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"strand": false,
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],
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"intron_rank": 5,
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"gene_symbol": "ACSM1",
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"hgvs_c": "n.981-1297C>T",
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}
],
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"dbsnp": "rs151222",
"frequency_reference_population": 0.000006574622,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657462,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.229,
"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": "ENST00000520010.6",
"gene_symbol": "ACSM1",
"hgnc_id": 18049,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.913-1297C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000568235.5",
"gene_symbol": "ACSM3",
"hgnc_id": 10522,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-190+52860G>A",
"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
}