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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: 17-61849152-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61849152&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61849152,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_032043.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "NM_032043.3",
"protein_id": "NP_114432.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1249,
"cds_start": 484,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000259008.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000259008.7",
"protein_id": "ENSP00000259008.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 1249,
"cds_start": 484,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_032043.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000682453.1",
"protein_id": "ENSP00000506943.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1249,
"cds_start": 484,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000683039.1",
"protein_id": "ENSP00000508303.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1249,
"cds_start": 484,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000682755.1",
"protein_id": "ENSP00000507660.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1175,
"cds_start": 484,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000577598.5",
"protein_id": "ENSP00000464654.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 994,
"cds_start": 484,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000683381.1",
"protein_id": "ENSP00000508184.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 872,
"cds_start": 484,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000682989.1",
"protein_id": "ENSP00000507786.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 870,
"cds_start": 484,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000584322.2",
"protein_id": "ENSP00000463272.2",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 852,
"cds_start": 484,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000577913.2",
"protein_id": "ENSP00000462274.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 220,
"cds_start": 484,
"cds_end": null,
"cds_length": 663,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "ENST00000682369.1",
"protein_id": "ENSP00000507450.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 220,
"cds_start": 484,
"cds_end": null,
"cds_length": 663,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525332.4",
"protein_id": "XP_011523634.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1269,
"cds_start": 484,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 8242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525333.4",
"protein_id": "XP_011523635.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1269,
"cds_start": 484,
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"cdna_start": 755,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525334.3",
"protein_id": "XP_011523636.1",
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"aa_start": 162,
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"cds_start": 484,
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"cdna_start": 2133,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525335.4",
"protein_id": "XP_011523637.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1249,
"cds_start": 484,
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"cds_length": 3750,
"cdna_start": 759,
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"cdna_length": 8182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_047436891.1",
"protein_id": "XP_047292847.1",
"transcript_support_level": null,
"aa_start": 162,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_047436892.1",
"protein_id": "XP_047292848.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1249,
"cds_start": 484,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525336.3",
"protein_id": "XP_011523638.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1229,
"cds_start": 484,
"cds_end": null,
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"cdna_start": 759,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_047436893.1",
"protein_id": "XP_047292849.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_047436894.1",
"protein_id": "XP_047292850.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525339.4",
"protein_id": "XP_011523641.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_047436895.1",
"protein_id": "XP_047292851.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 872,
"cds_start": 484,
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"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162*",
"transcript": "XM_011525340.4",
"protein_id": "XP_011523642.1",
"transcript_support_level": null,
"aa_start": 162,
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{
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"verdict": "Pathogenic",
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group J;Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Gastric cancer|BRIP1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}