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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: 17-44207497-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44207497&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBTF",
"hgnc_id": 12511,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014233.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATXN7L3-AS1",
"hgnc_id": 55298,
"hgvs_c": "n.53+8563G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000586560.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.7353,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6361547112464905,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_014233.4",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000436088.6",
"protein_coding": true,
"protein_id": "NP_055048.1",
"strand": false,
"transcript": "NM_014233.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000436088.6",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014233.4",
"protein_coding": true,
"protein_id": "ENSP00000390669.1",
"strand": false,
"transcript": "ENST00000436088.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000529383.5",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435708.1",
"strand": false,
"transcript": "ENST00000529383.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 727,
"aa_ref": "S",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000343638.9",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Ser672Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345297.5",
"strand": false,
"transcript": "ENST00000343638.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 727,
"aa_ref": "S",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000393606.7",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Ser672Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377231.3",
"strand": false,
"transcript": "ENST00000393606.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 781,
"aa_ref": "S",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905776.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ser726Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575835.1",
"strand": false,
"transcript": "ENST00000905776.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 781,
"aa_ref": "S",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905789.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ser726Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575848.1",
"strand": false,
"transcript": "ENST00000905789.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 781,
"aa_ref": "S",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3196,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000931845.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ser726Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601904.1",
"strand": false,
"transcript": "ENST00000931845.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 781,
"aa_ref": "S",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000962309.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ser726Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632368.1",
"strand": false,
"transcript": "ENST00000962309.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4997,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000302904.8",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000302640.4",
"strand": false,
"transcript": "ENST00000302904.8",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000704741.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516019.1",
"strand": false,
"transcript": "ENST00000704741.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000704746.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516023.1",
"strand": false,
"transcript": "ENST00000704746.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905780.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575839.1",
"strand": false,
"transcript": "ENST00000905780.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905782.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575841.1",
"strand": false,
"transcript": "ENST00000905782.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905794.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575853.1",
"strand": false,
"transcript": "ENST00000905794.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905798.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575857.1",
"strand": false,
"transcript": "ENST00000905798.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000931835.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601894.1",
"strand": false,
"transcript": "ENST00000931835.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000931839.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601898.1",
"strand": false,
"transcript": "ENST00000931839.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 764,
"aa_ref": "S",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000931842.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ser709Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601901.1",
"strand": false,
"transcript": "ENST00000931842.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 763,
"aa_ref": "S",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2123,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000962308.1",
"gene_hgnc_id": 12511,
"gene_symbol": "UBTF",
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Ser708Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632367.1",
"strand": false,
"transcript": "ENST00000962308.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 762,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
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