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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: 8-141151647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141151647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 141151647,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001362798.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "NM_001352890.3",
"protein_id": "NP_001339819.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1278,
"cds_start": 884,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519811.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352890.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000519811.6",
"protein_id": "ENSP00000428714.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 1278,
"cds_start": 884,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352890.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519811.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "ENST00000424248.2",
"protein_id": "ENSP00000410594.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 1146,
"cds_start": 644,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424248.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "NM_001362798.2",
"protein_id": "NP_001349727.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1296,
"cds_start": 884,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362798.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000885117.1",
"protein_id": "ENSP00000555176.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1274,
"cds_start": 884,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885117.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "NM_014957.5",
"protein_id": "NP_055772.3",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1211,
"cds_start": 683,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014957.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000518668.5",
"protein_id": "ENSP00000428276.1",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 1202,
"cds_start": 812,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518668.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "ENST00000262585.6",
"protein_id": "ENSP00000262585.2",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 1198,
"cds_start": 644,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262585.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "ENST00000520986.5",
"protein_id": "ENSP00000429780.1",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 279,
"cds_start": 650,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520986.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_011516933.3",
"protein_id": "XP_011515235.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1286,
"cds_start": 884,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516933.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_005250840.6",
"protein_id": "XP_005250897.3",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1244,
"cds_start": 884,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250840.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_047421591.1",
"protein_id": "XP_047277547.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1234,
"cds_start": 884,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421591.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_005250841.5",
"protein_id": "XP_005250898.3",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1226,
"cds_start": 884,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250841.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_005250842.5",
"protein_id": "XP_005250899.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1218,
"cds_start": 650,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250842.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_011516934.4",
"protein_id": "XP_011515236.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1217,
"cds_start": 884,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516934.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047421592.1",
"protein_id": "XP_047277548.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1208,
"cds_start": 650,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421592.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047421593.1",
"protein_id": "XP_047277549.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1200,
"cds_start": 650,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421593.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047421594.1",
"protein_id": "XP_047277550.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1166,
"cds_start": 650,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421594.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_047421595.1",
"protein_id": "XP_047277551.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1165,
"cds_start": 884,
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"cds_length": 3498,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421595.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_047421596.1",
"protein_id": "XP_047277552.1",
"transcript_support_level": null,
"aa_start": 295,
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"aa_length": 1156,
"cds_start": 884,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421596.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047421597.1",
"protein_id": "XP_047277553.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1148,
"cds_start": 650,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421597.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217Gln",
"transcript": "XM_047421598.1",
"protein_id": "XP_047277554.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1139,
"cds_start": 650,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"dbsnp": "rs773734634",
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"computational_score_selected": 0.2473621964454651,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001362798.2",
"gene_symbol": "DENND3",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}