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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: 6-155256996-AGT-CGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=155256996&ref=AGT&alt=CGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TIAM2",
"hgnc_id": 11806,
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_012454.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "TFB1M",
"hgnc_id": 17037,
"hgvs_c": "c.*838_*840delACTinsCCG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_016020.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"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": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 5367,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012454.4",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682666.1",
"protein_coding": true,
"protein_id": "NP_036586.3",
"strand": true,
"transcript": "NM_012454.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 5367,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682666.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012454.4",
"protein_coding": true,
"protein_id": "ENSP00000507157.1",
"strand": true,
"transcript": "ENST00000682666.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "S",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 3042,
"cds_start": 2917,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456877.6",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.2917_2919delAGTinsCGG",
"hgvs_p": "p.Ser973Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407183.2",
"strand": true,
"transcript": "ENST00000456877.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 2267,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1756,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000275246.11",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.1756_1758delAGTinsCGG",
"hgvs_p": "p.Ser586Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000275246.7",
"strand": true,
"transcript": "ENST00000275246.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_016020.4",
"gene_hgnc_id": 17037,
"gene_symbol": "TFB1M",
"hgvs_c": "c.*838_*840delACTinsCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367166.5",
"protein_coding": true,
"protein_id": "NP_057104.2",
"strand": false,
"transcript": "NM_016020.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367166.5",
"gene_hgnc_id": 17037,
"gene_symbol": "TFB1M",
"hgvs_c": "c.*838_*840delACTinsCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016020.4",
"protein_coding": true,
"protein_id": "ENSP00000356134.4",
"strand": false,
"transcript": "ENST00000367166.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "S",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 5371,
"cds_end": null,
"cds_length": 5265,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950126.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.5140_5142delAGTinsCGG",
"hgvs_p": "p.Ser1714Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620185.1",
"strand": true,
"transcript": "ENST00000950126.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1730,
"aa_ref": "S",
"aa_start": 1690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5262,
"cdna_start": 5068,
"cds_end": null,
"cds_length": 5193,
"cds_start": 5068,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529824.6",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.5068_5070delAGTinsCGG",
"hgvs_p": "p.Ser1690Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433348.2",
"strand": true,
"transcript": "ENST00000529824.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1725,
"aa_ref": "S",
"aa_start": 1685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 5105,
"cds_end": null,
"cds_length": 5178,
"cds_start": 5053,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360366.8",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.5053_5055delAGTinsCGG",
"hgvs_p": "p.Ser1685Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353528.4",
"strand": true,
"transcript": "ENST00000360366.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5976,
"cdna_start": 5249,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384546.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371475.1",
"strand": true,
"transcript": "NM_001384546.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 5275,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384547.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371476.1",
"strand": true,
"transcript": "NM_001384547.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 6254,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461783.7",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437188.2",
"strand": true,
"transcript": "ENST00000461783.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": 5441,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929431.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599490.1",
"strand": true,
"transcript": "ENST00000929431.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5484,
"cdna_start": 5298,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950123.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620182.1",
"strand": true,
"transcript": "ENST00000950123.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5963,
"cdna_start": 5748,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950124.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620183.1",
"strand": true,
"transcript": "ENST00000950124.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 5267,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4981,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950125.1",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.4981_4983delAGTinsCGG",
"hgvs_p": "p.Ser1661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620184.1",
"strand": true,
"transcript": "ENST00000950125.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "S",
"aa_start": 1005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 3155,
"cds_end": null,
"cds_length": 3138,
"cds_start": 3013,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528391.6",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.3013_3015delAGTinsCGG",
"hgvs_p": "p.Ser1005Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435335.2",
"strand": true,
"transcript": "ENST00000528391.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1756,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001010927.3",
"gene_hgnc_id": 11806,
"gene_symbol": "TIAM2",
"hgvs_c": "c.1756_1758delAGTinsCGG",
"hgvs_p": "p.Ser586Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001010927.2",
"strand": true,
"transcript": "NM_001010927.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001350501.2",
"gene_hgnc_id": 17037,
"gene_symbol": "TFB1M",
"hgvs_c": "c.*838_*840delACTinsCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337430.1",
"strand": false,
"transcript": "NM_001350501.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": null,
"cds_end": null,
"cds_length": 756,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001350502.2",
"gene_hgnc_id": 17037,
"gene_symbol": "TFB1M",
"hgvs_c": "c.*838_*840delACTinsCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337431.1",
"strand": false,
"transcript": "NM_001350502.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
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