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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: 17-61684056-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61684056&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BRIP1",
"hgnc_id": 20473,
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032043.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1016,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial cancer of breast,Fanconi anemia complementation group J,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:9",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05610084533691406,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_032043.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000259008.7",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5893,
"cdna_start": 3103,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000682453.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6102,
"cdna_start": 3312,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000683039.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000854938.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3294,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000854939.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "T",
"aa_start": 977,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6008,
"cdna_start": 3218,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2930,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000923498.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2930C>T",
"hgvs_p": "p.Thr977Ile",
"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": "I",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "T",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 3037,
"cds_end": null,
"cds_length": 3549,
"cds_start": 2789,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923499.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2789C>T",
"hgvs_p": "p.Thr930Ile",
"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": "I",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "T",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7715,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3528,
"cds_start": 2768,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000682755.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2768C>T",
"hgvs_p": "p.Thr923Ile",
"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": "I",
"aa_end": null,
"aa_length": 970,
"aa_ref": "T",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000684584.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Thr718Ile",
"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
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "T",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8242,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3050,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011525332.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3050C>T",
"hgvs_p": "p.Thr1017Ile",
"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
},
{
"aa_alt": "I",
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"aa_length": 1269,
"aa_ref": "T",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8238,
"cdna_start": 3321,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3050,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011525333.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3050C>T",
"hgvs_p": "p.Thr1017Ile",
"intron_rank": null,
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"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_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9616,
"cdna_start": 4699,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3050,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011525334.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.3050C>T",
"hgvs_p": "p.Thr1017Ile",
"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": "I",
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"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011525335.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523637.1",
"strand": false,
"transcript": "XM_011525335.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 3261,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436891.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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
},
{
"aa_alt": "I",
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"aa_length": 1249,
"aa_ref": "T",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9556,
"cdna_start": 4639,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436892.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2990C>T",
"hgvs_p": "p.Thr997Ile",
"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": "I",
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"aa_length": 1229,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8122,
"cdna_start": 3205,
"cds_end": null,
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"cds_start": 2930,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011525336.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2930C>T",
"hgvs_p": "p.Thr977Ile",
"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": "I",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8118,
"cdna_start": 3201,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2930,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436893.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2930C>T",
"hgvs_p": "p.Thr977Ile",
"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": "I",
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"aa_length": 1229,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9496,
"cdna_start": 4579,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2930,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436894.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2930C>T",
"hgvs_p": "p.Thr977Ile",
"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.*81C>T",
"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": [
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