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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: 17-8828180-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8828180&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8828180,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001010855.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "NM_001010855.4",
"protein_id": "NP_001010855.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 754,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "ENST00000619866.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010855.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "ENST00000619866.5",
"protein_id": "ENSP00000480157.1",
"transcript_support_level": 5,
"aa_start": 442,
"aa_end": null,
"aa_length": 754,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "NM_001010855.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619866.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "ENST00000907451.1",
"protein_id": "ENSP00000577510.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 752,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907451.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "ENST00000907452.1",
"protein_id": "ENSP00000577511.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 749,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907452.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "ENST00000907453.1",
"protein_id": "ENSP00000577512.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 713,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907453.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.916A>G",
"hgvs_p": "p.Thr306Ala",
"transcript": "NM_001290211.1",
"protein_id": "NP_001277140.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 618,
"cds_start": 916,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290211.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_047435443.1",
"protein_id": "XP_047291399.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 770,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435443.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_011523677.3",
"protein_id": "XP_011521979.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 769,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523677.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "XM_011523678.3",
"protein_id": "XP_011521980.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 765,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523678.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "XM_047435444.1",
"protein_id": "XP_047291400.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 764,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435444.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_047435446.1",
"protein_id": "XP_047291402.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 753,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435446.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "XM_047435447.1",
"protein_id": "XP_047291403.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 749,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435447.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "XM_047435448.1",
"protein_id": "XP_047291404.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 748,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435448.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_047435449.1",
"protein_id": "XP_047291405.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 736,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435449.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_011523680.3",
"protein_id": "XP_011521982.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 729,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523680.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "XM_047435450.1",
"protein_id": "XP_047291406.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 724,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435450.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_047435451.1",
"protein_id": "XP_047291407.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 713,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435451.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Thr437Ala",
"transcript": "XM_047435452.1",
"protein_id": "XP_047291408.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 708,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435452.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Thr362Ala",
"transcript": "XM_011523683.3",
"protein_id": "XP_011521985.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 690,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523683.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Thr362Ala",
"transcript": "XM_047435453.1",
"protein_id": "XP_047291409.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 690,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435453.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Thr362Ala",
"transcript": "XM_047435454.1",
"protein_id": "XP_047291410.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 690,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435454.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R6",
"gene_hgnc_id": 27101,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Thr442Ala",
"transcript": "XM_047435456.1",
"protein_id": "XP_047291412.1",
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{
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{
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{
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{
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{
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{
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{
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05656352639198303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": 0.0992,
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.465,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001010855.4",
"gene_symbol": "PIK3R6",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1324A>G",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}