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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: 20-18472909-GG-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18472909&ref=GG&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "POLR3F",
"hgnc_id": 15763,
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006466.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 316,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 365,
"cds_end": null,
"cds_length": 951,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006466.4",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377603.5",
"protein_coding": true,
"protein_id": "NP_006457.2",
"strand": true,
"transcript": "NM_006466.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 316,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 365,
"cds_end": null,
"cds_length": 951,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377603.5",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006466.4",
"protein_coding": true,
"protein_id": "ENSP00000366828.4",
"strand": true,
"transcript": "ENST00000377603.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 275,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 469,
"cds_end": null,
"cds_length": 828,
"cds_start": 125,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462997.6",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.125_125+1delGGinsAC",
"hgvs_p": "p.Gly42Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513375.1",
"strand": true,
"transcript": "ENST00000462997.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000697652.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-5_-5+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513376.1",
"strand": true,
"transcript": "ENST00000697652.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000697658.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-26_-26+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513383.1",
"strand": true,
"transcript": "ENST00000697658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000489753.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-5_-5+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513384.1",
"strand": true,
"transcript": "ENST00000489753.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 50,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 696,
"cdna_start": null,
"cds_end": null,
"cds_length": 153,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000497333.5",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-34_-34+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513377.1",
"strand": true,
"transcript": "ENST00000497333.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439837.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-5_-5+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295793.1",
"strand": true,
"transcript": "XM_047439837.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 348,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1047,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697647.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513371.1",
"strand": true,
"transcript": "ENST00000697647.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 323,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 366,
"cds_end": null,
"cds_length": 972,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697651.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513374.1",
"strand": true,
"transcript": "ENST00000697651.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 275,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 468,
"cds_end": null,
"cds_length": 828,
"cds_start": 125,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282526.2",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.125_125+1delGGinsAC",
"hgvs_p": "p.Gly42Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269455.1",
"strand": true,
"transcript": "NM_001282526.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 268,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 365,
"cds_end": null,
"cds_length": 807,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410821.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397750.1",
"strand": true,
"transcript": "NM_001410821.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 268,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 366,
"cds_end": null,
"cds_length": 807,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697649.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513372.1",
"strand": true,
"transcript": "ENST00000697649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 233,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": null,
"cds_end": null,
"cds_length": 702,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855082.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.180+3848_180+3849delGGinsAC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525141.1",
"strand": true,
"transcript": "ENST00000855082.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"5_prime_UTR_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000697652.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-5_-5+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513376.1",
"strand": true,
"transcript": "ENST00000697652.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"5_prime_UTR_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000697658.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-26_-26+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513383.1",
"strand": true,
"transcript": "ENST00000697658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"5_prime_UTR_variant",
"intron_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000489753.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-5_-5+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513384.1",
"strand": true,
"transcript": "ENST00000489753.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 168,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 359,
"cds_end": null,
"cds_length": 507,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697654.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513379.1",
"strand": true,
"transcript": "ENST00000697654.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 50,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 696,
"cdna_start": null,
"cds_end": null,
"cds_length": 153,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"5_prime_UTR_variant",
"intron_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000497333.5",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.-34_-34+1delGGinsAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513377.1",
"strand": true,
"transcript": "ENST00000497333.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 237,
"aa_ref": "G",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 365,
"cds_end": null,
"cds_length": 714,
"cds_start": 248,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439836.1",
"gene_hgnc_id": 15763,
"gene_symbol": "POLR3F",
"hgvs_c": "c.248_248+1delGGinsAC",
"hgvs_p": "p.Gly83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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