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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: 17-61683634-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61683634&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61683634,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032043.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "NM_032043.3",
"protein_id": "NP_114432.2",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259008.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032043.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "ENST00000259008.7",
"protein_id": "ENSP00000259008.2",
"transcript_support_level": 1,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032043.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259008.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "ENST00000682453.1",
"protein_id": "ENSP00000506943.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682453.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "ENST00000683039.1",
"protein_id": "ENSP00000508303.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683039.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "ENST00000854938.1",
"protein_id": "ENSP00000524997.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854938.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "ENST00000854939.1",
"protein_id": "ENSP00000524998.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854939.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3352G>A",
"hgvs_p": "p.Asp1118Asn",
"transcript": "ENST00000923498.1",
"protein_id": "ENSP00000593557.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923498.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.3211G>A",
"hgvs_p": "p.Asp1071Asn",
"transcript": "ENST00000923499.1",
"protein_id": "ENSP00000593558.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923499.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3190G>A",
"hgvs_p": "p.Asp1064Asn",
"transcript": "ENST00000682755.1",
"protein_id": "ENSP00000507660.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682755.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2575G>A",
"hgvs_p": "p.Asp859Asn",
"transcript": "ENST00000684584.1",
"protein_id": "ENSP00000508044.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 970,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684584.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3472G>A",
"hgvs_p": "p.Asp1158Asn",
"transcript": "XM_011525332.4",
"protein_id": "XP_011523634.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525332.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3472G>A",
"hgvs_p": "p.Asp1158Asn",
"transcript": "XM_011525333.4",
"protein_id": "XP_011523635.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525333.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3472G>A",
"hgvs_p": "p.Asp1158Asn",
"transcript": "XM_011525334.3",
"protein_id": "XP_011523636.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525334.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "XM_011525335.4",
"protein_id": "XP_011523637.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525335.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "XM_047436891.1",
"protein_id": "XP_047292847.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436891.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3412G>A",
"hgvs_p": "p.Asp1138Asn",
"transcript": "XM_047436892.1",
"protein_id": "XP_047292848.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3412,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436892.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3352G>A",
"hgvs_p": "p.Asp1118Asn",
"transcript": "XM_011525336.3",
"protein_id": "XP_011523638.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525336.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3352G>A",
"hgvs_p": "p.Asp1118Asn",
"transcript": "XM_047436893.1",
"protein_id": "XP_047292849.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436893.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3352G>A",
"hgvs_p": "p.Asp1118Asn",
"transcript": "XM_047436894.1",
"protein_id": "XP_047292850.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436894.1"
},
{
"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,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.*503G>A",
"hgvs_p": null,
"transcript": "ENST00000682989.1",
"protein_id": "ENSP00000507786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682989.1"
},
{
"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.2152G>A",
"hgvs_p": null,
"transcript": "ENST00000682073.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682073.1"
},
{
"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.*2838G>A",
"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": null,
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],
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"dbsnp": "rs587780249",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43270882964134216,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.375,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1021,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.937,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_032043.3",
"gene_symbol": "BRIP1",
"hgnc_id": 20473,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3412G>A",
"hgvs_p": "p.Asp1138Asn"
}
],
"clinvar_disease": "Familial cancer of breast,Fanconi anemia complementation group J,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Familial cancer of breast;Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group J|Familial cancer of breast",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}