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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: 10-114187922-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114187922&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TDRD1",
"hgnc_id": 11712,
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_198795.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1152,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16126227378845215,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 161,
"cds_end": null,
"cds_length": 3543,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001395205.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695399.1",
"protein_coding": true,
"protein_id": "NP_001382134.1",
"strand": true,
"transcript": "NM_001395205.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8149,
"cdna_start": 161,
"cds_end": null,
"cds_length": 3543,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000695399.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395205.1",
"protein_coding": true,
"protein_id": "ENSP00000511878.1",
"strand": true,
"transcript": "ENST00000695399.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4870,
"cdna_start": 244,
"cds_end": null,
"cds_length": 3570,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000251864.7",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000251864.2",
"strand": true,
"transcript": "ENST00000251864.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": 194,
"cds_end": null,
"cds_length": 3570,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385363.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372292.1",
"strand": true,
"transcript": "NM_001385363.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4855,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3570,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_198795.2",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_942090.1",
"strand": true,
"transcript": "NM_198795.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4794,
"cdna_start": 161,
"cds_end": null,
"cds_length": 3543,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385364.2",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372293.1",
"strand": true,
"transcript": "NM_001385364.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 239,
"cds_end": null,
"cds_length": 3543,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952550.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622609.1",
"strand": true,
"transcript": "ENST00000952550.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 128,
"cds_end": null,
"cds_length": 3531,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001365891.2",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352820.1",
"strand": true,
"transcript": "NM_001365891.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1167,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4767,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3504,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385365.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372294.1",
"strand": true,
"transcript": "NM_001385365.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": 225,
"cds_end": null,
"cds_length": 3399,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860255.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530314.1",
"strand": true,
"transcript": "ENST00000860255.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1123,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8044,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3372,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385366.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372295.1",
"strand": true,
"transcript": "NM_001385366.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1123,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": 191,
"cds_end": null,
"cds_length": 3372,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
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"feature": "ENST00000860256.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530315.1",
"strand": true,
"transcript": "ENST00000860256.1",
"transcript_support_level": null
},
{
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"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4627,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 2,
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"feature": "NM_001385367.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372296.1",
"strand": true,
"transcript": "NM_001385367.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1113,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 244,
"cds_end": null,
"cds_length": 3342,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000369282.5",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358288.1",
"strand": true,
"transcript": "ENST00000369282.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
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"aa_length": 1104,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 227,
"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385368.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372297.1",
"strand": true,
"transcript": "NM_001385368.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1104,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7987,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3315,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385369.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372298.1",
"strand": true,
"transcript": "NM_001385369.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1104,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 551,
"cds_end": null,
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"cds_start": 91,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000369280.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358286.1",
"strand": true,
"transcript": "ENST00000369280.1",
"transcript_support_level": 5
},
{
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"aa_ref": "N",
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"cdna_start": 266,
"cds_end": null,
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"cds_start": 91,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952551.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622610.1",
"strand": true,
"transcript": "ENST00000952551.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 227,
"cds_end": null,
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"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385372.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372301.1",
"strand": true,
"transcript": "NM_001385372.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7873,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3201,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385370.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
"hgvs_p": "p.Asn31Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372299.1",
"strand": true,
"transcript": "NM_001385370.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "N",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7843,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3171,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385371.1",
"gene_hgnc_id": 11712,
"gene_symbol": "TDRD1",
"hgvs_c": "c.91A>T",
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