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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: 17-61685986-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61685986&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BRIP1",
"hgnc_id": 20473,
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_032043.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 959555,
"alphamissense_prediction": null,
"alphamissense_score": 0.0638,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "Familial cancer of breast,Fanconi anemia complementation group J,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,Ovarian cancer,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:14 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000001359893303742865,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_032043.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000259008.7",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5893,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000682453.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6102,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000683039.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000854938.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000854939.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "S",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6008,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923498.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2695T>C",
"hgvs_p": "p.Ser899Pro",
"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": "P",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "S",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 3549,
"cds_start": 2554,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923499.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2554T>C",
"hgvs_p": "p.Ser852Pro",
"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": "P",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "S",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7715,
"cdna_start": 2563,
"cds_end": null,
"cds_length": 3528,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000682755.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2533T>C",
"hgvs_p": "p.Ser845Pro",
"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": "P",
"aa_end": null,
"aa_length": 994,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000577598.5",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464654.1",
"strand": false,
"transcript": "ENST00000577598.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "S",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8242,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 3810,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011525332.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2815T>C",
"hgvs_p": "p.Ser939Pro",
"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": "P",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "S",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8238,
"cdna_start": 3086,
"cds_end": null,
"cds_length": 3810,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011525333.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2815T>C",
"hgvs_p": "p.Ser939Pro",
"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
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "S",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9616,
"cdna_start": 4464,
"cds_end": null,
"cds_length": 3810,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011525334.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2815T>C",
"hgvs_p": "p.Ser939Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011525335.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 3026,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436891.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "S",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9556,
"cdna_start": 4404,
"cds_end": null,
"cds_length": 3750,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436892.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2755T>C",
"hgvs_p": "p.Ser919Pro",
"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": "P",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "S",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8122,
"cdna_start": 2970,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011525336.3",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2695T>C",
"hgvs_p": "p.Ser899Pro",
"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": "P",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "S",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8118,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436893.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2695T>C",
"hgvs_p": "p.Ser899Pro",
"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": "P",
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"aa_length": 1229,
"aa_ref": "S",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9496,
"cdna_start": 4344,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436894.1",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.2695T>C",
"hgvs_p": "p.Ser899Pro",
"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": 853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": null,
"cds_end": null,
"cds_length": 2562,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011525340.4",
"gene_hgnc_id": 20473,
"gene_symbol": "BRIP1",
"hgvs_c": "c.*170T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523642.1",
"strand": false,
"transcript": "XM_011525340.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 833,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": null,
"cds_end": null,
"cds_length": 2502,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
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