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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: 17-61684052-C-CTTTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61684052&ref=C&alt=CTTTG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61684052,
"ref": "C",
"alt": "CTTTG",
"effect": "frameshift_variant",
"transcript": "ENST00000259008.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "NM_032043.3",
"protein_id": "NP_114432.2",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000259008.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "ENST00000259008.7",
"protein_id": "ENSP00000259008.2",
"transcript_support_level": 1,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_032043.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "ENST00000682453.1",
"protein_id": "ENSP00000506943.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3106,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "ENST00000683039.1",
"protein_id": "ENSP00000508303.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2768_2771dupCAAA",
"hgvs_p": "p.Lys924fs",
"transcript": "ENST00000682755.1",
"protein_id": "ENSP00000507660.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2153_2156dupCAAA",
"hgvs_p": "p.Lys719fs",
"transcript": "ENST00000684584.1",
"protein_id": "ENSP00000508044.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 970,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3050_3053dupCAAA",
"hgvs_p": "p.Lys1018fs",
"transcript": "XM_011525332.4",
"protein_id": "XP_011523634.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 8242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3050_3053dupCAAA",
"hgvs_p": "p.Lys1018fs",
"transcript": "XM_011525333.4",
"protein_id": "XP_011523635.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3050_3053dupCAAA",
"hgvs_p": "p.Lys1018fs",
"transcript": "XM_011525334.3",
"protein_id": "XP_011523636.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 4702,
"cdna_end": null,
"cdna_length": 9616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "XM_011525335.4",
"protein_id": "XP_011523637.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "XM_047436891.1",
"protein_id": "XP_047292847.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs",
"transcript": "XM_047436892.1",
"protein_id": "XP_047292848.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 4642,
"cdna_end": null,
"cdna_length": 9556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2930_2933dupCAAA",
"hgvs_p": "p.Lys978fs",
"transcript": "XM_011525336.3",
"protein_id": "XP_011523638.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 8122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2930_2933dupCAAA",
"hgvs_p": "p.Lys978fs",
"transcript": "XM_047436893.1",
"protein_id": "XP_047292849.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 8118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "NK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2930_2933dupCAAA",
"hgvs_p": "p.Lys978fs",
"transcript": "XM_047436894.1",
"protein_id": "XP_047292850.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 4582,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.1730_1733dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000682073.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*2416_*2419dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000682477.1",
"protein_id": "ENSP00000507075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.8867_8870dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000682589.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*405_*408dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000683235.1",
"protein_id": "ENSP00000507646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.1120_1123dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000683535.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.1236_1239dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000684626.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*481_*484dupCAAA",
"hgvs_p": null,
"transcript": "ENST00000684769.1",
"protein_id": "ENSP00000507691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "BRIP1",
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}
],
"gene_symbol": "BRIP1",
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"dbsnp": "rs771028677",
"frequency_reference_population": 0.0000013684964,
"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.668,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
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"PP5"
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"verdict": "Pathogenic",
"transcript": "ENST00000259008.7",
"gene_symbol": "BRIP1",
"hgnc_id": 20473,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2990_2993dupCAAA",
"hgvs_p": "p.Lys998fs"
}
],
"clinvar_disease": "Familial cancer of breast,Fanconi anemia complementation group J,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:1",
"phenotype_combined": "Familial cancer of breast;Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}