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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: 17-61683536-AAG-CAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61683536&ref=AAG&alt=CAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BRIP1",
"hgnc_id": 20473,
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032043.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3785,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032043.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000259008.7",
"protein_coding": true,
"protein_id": "NP_114432.2",
"strand": false,
"transcript": "NM_032043.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3785,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000259008.7",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032043.3",
"protein_coding": true,
"protein_id": "ENSP00000259008.2",
"strand": false,
"transcript": "ENST00000259008.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5893,
"cdna_start": 3623,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682453.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506943.1",
"strand": false,
"transcript": "ENST00000682453.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6102,
"cdna_start": 3832,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683039.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508303.1",
"strand": false,
"transcript": "ENST00000683039.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 3591,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854938.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524997.1",
"strand": false,
"transcript": "ENST00000854938.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3814,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854939.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524998.1",
"strand": false,
"transcript": "ENST00000854939.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "L",
"aa_start": 1150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6008,
"cdna_start": 3738,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923498.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3448_3450delCTTinsGTG",
"hgvs_p": "p.Leu1150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593557.1",
"strand": false,
"transcript": "ENST00000923498.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "L",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 3549,
"cds_start": 3307,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923499.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3307_3309delCTTinsGTG",
"hgvs_p": "p.Leu1103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593558.1",
"strand": false,
"transcript": "ENST00000923499.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "L",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7715,
"cdna_start": 3318,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682755.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3286_3288delCTTinsGTG",
"hgvs_p": "p.Leu1096Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507660.1",
"strand": false,
"transcript": "ENST00000682755.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 970,
"aa_ref": "L",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": 2673,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2671,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684584.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2671_2673delCTTinsGTG",
"hgvs_p": "p.Leu891Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508044.1",
"strand": false,
"transcript": "ENST00000684584.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1269,
"aa_ref": "L",
"aa_start": 1190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8242,
"cdna_start": 3845,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3568,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525332.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3568_3570delCTTinsGTG",
"hgvs_p": "p.Leu1190Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523634.1",
"strand": false,
"transcript": "XM_011525332.4",
"transcript_support_level": null
},
{
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"aa_length": 1269,
"aa_ref": "L",
"aa_start": 1190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8238,
"cdna_start": 3841,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3568,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525333.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3568_3570delCTTinsGTG",
"hgvs_p": "p.Leu1190Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523635.1",
"strand": false,
"transcript": "XM_011525333.4",
"transcript_support_level": null
},
{
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"aa_length": 1269,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9616,
"cdna_start": 5219,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3568,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525334.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3568_3570delCTTinsGTG",
"hgvs_p": "p.Leu1190Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523636.1",
"strand": false,
"transcript": "XM_011525334.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3785,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525335.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523637.1",
"strand": false,
"transcript": "XM_011525335.4",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 3781,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436891.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292847.1",
"strand": false,
"transcript": "XM_047436891.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1249,
"aa_ref": "L",
"aa_start": 1170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9556,
"cdna_start": 5159,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3508,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436892.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3508_3510delCTTinsGTG",
"hgvs_p": "p.Leu1170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292848.1",
"strand": false,
"transcript": "XM_047436892.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "L",
"aa_start": 1150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8122,
"cdna_start": 3725,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3448,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525336.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3448_3450delCTTinsGTG",
"hgvs_p": "p.Leu1150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523638.1",
"strand": false,
"transcript": "XM_011525336.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "L",
"aa_start": 1150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8118,
"cdna_start": 3721,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436893.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3448_3450delCTTinsGTG",
"hgvs_p": "p.Leu1150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292849.1",
"strand": false,
"transcript": "XM_047436893.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "L",
"aa_start": 1150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9496,
"cdna_start": 5099,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436894.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3448_3450delCTTinsGTG",
"hgvs_p": "p.Leu1150Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292850.1",
"strand": false,
"transcript": "XM_047436894.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 870,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5721,
"cdna_start": null,
"cds_end": null,
"cds_length": 2613,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000682989.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.*599_*601delCTTinsGTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507786.1",
"strand": false,
"transcript": "ENST00000682989.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
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