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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: 22-17743926-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17743926&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17743926,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_197967.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "NM_001196.4",
"protein_id": "NP_001187.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": "ENST00000622694.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001196.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000622694.5",
"protein_id": "ENSP00000480414.1",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": "NM_001196.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622694.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000317361.11",
"protein_id": "ENSP00000318822.7",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 241,
"cds_start": 238,
"cds_end": null,
"cds_length": 726,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317361.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000551952.5",
"protein_id": "ENSP00000449236.1",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551952.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000342111.9",
"protein_id": "ENSP00000344594.5",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 137,
"cds_start": 100,
"cds_end": null,
"cds_length": 414,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342111.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000550946.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000550946.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.-189C>T",
"hgvs_p": null,
"transcript": "NM_197967.2",
"protein_id": "NP_932071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197967.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.-189C>T",
"hgvs_p": null,
"transcript": "ENST00000399767.6",
"protein_id": "ENSP00000382669.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399767.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "NM_197966.3",
"protein_id": "NP_932070.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 241,
"cds_start": 238,
"cds_end": null,
"cds_length": 726,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197966.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890845.1",
"protein_id": "ENSP00000560904.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 200,
"cds_start": 100,
"cds_end": null,
"cds_length": 603,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890845.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890852.1",
"protein_id": "ENSP00000560911.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 200,
"cds_start": 100,
"cds_end": null,
"cds_length": 603,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890852.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000931697.1",
"protein_id": "ENSP00000601756.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 200,
"cds_start": 100,
"cds_end": null,
"cds_length": 603,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931697.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "NM_001244567.1",
"protein_id": "NP_001231496.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244567.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890844.1",
"protein_id": "ENSP00000560903.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890844.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890846.1",
"protein_id": "ENSP00000560905.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890846.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890847.1",
"protein_id": "ENSP00000560906.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890847.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890848.1",
"protein_id": "ENSP00000560907.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890848.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890849.1",
"protein_id": "ENSP00000560908.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890849.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890850.1",
"protein_id": "ENSP00000560909.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890850.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890851.1",
"protein_id": "ENSP00000560910.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890851.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890853.1",
"protein_id": "ENSP00000560912.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890853.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BID",
"gene_hgnc_id": 1050,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000890854.1",
"protein_id": "ENSP00000560913.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 195,
"cds_start": 100,
"cds_end": null,
"cds_length": 588,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890854.1"
},
{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}