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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: 8-141155958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141155958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 141155958,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362798.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "NM_001352890.3",
"protein_id": "NP_001339819.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "ENST00000519811.6",
"protein_id": "ENSP00000428714.1",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"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.944C>T",
"hgvs_p": "p.Thr315Met",
"transcript": "ENST00000424248.2",
"protein_id": "ENSP00000410594.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 1146,
"cds_start": 944,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "NM_001362798.2",
"protein_id": "NP_001349727.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "ENST00000885117.1",
"protein_id": "ENSP00000555176.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1274,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Thr328Met",
"transcript": "NM_014957.5",
"protein_id": "NP_055772.3",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 1211,
"cds_start": 983,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Met",
"transcript": "ENST00000518668.5",
"protein_id": "ENSP00000428276.1",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 1202,
"cds_start": 1112,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Thr315Met",
"transcript": "ENST00000262585.6",
"protein_id": "ENSP00000262585.2",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 1198,
"cds_start": 944,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_011516933.3",
"protein_id": "XP_011515235.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_005250840.6",
"protein_id": "XP_005250897.3",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_047421591.1",
"protein_id": "XP_047277547.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1184,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_005250841.5",
"protein_id": "XP_005250898.3",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250841.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Thr317Met",
"transcript": "XM_005250842.5",
"protein_id": "XP_005250899.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1218,
"cds_start": 950,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250842.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_011516934.4",
"protein_id": "XP_011515236.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516934.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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.950C>T",
"hgvs_p": "p.Thr317Met",
"transcript": "XM_047421592.1",
"protein_id": "XP_047277548.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1208,
"cds_start": 950,
"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": "T",
"aa_alt": "M",
"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.950C>T",
"hgvs_p": "p.Thr317Met",
"transcript": "XM_047421593.1",
"protein_id": "XP_047277549.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1200,
"cds_start": 950,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421593.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Thr317Met",
"transcript": "XM_047421594.1",
"protein_id": "XP_047277550.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1166,
"cds_start": 950,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421594.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_047421595.1",
"protein_id": "XP_047277551.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421595.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_047421596.1",
"protein_id": "XP_047277552.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421596.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Thr317Met",
"transcript": "XM_047421597.1",
"protein_id": "XP_047277553.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1148,
"cds_start": 950,
"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": "T",
"aa_alt": "M",
"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.950C>T",
"hgvs_p": "p.Thr317Met",
"transcript": "XM_047421598.1",
"protein_id": "XP_047277554.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1139,
"cds_start": 950,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421598.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Thr395Met",
"transcript": "XM_047421599.1",
"protein_id": "XP_047277555.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
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"cdna_length": null,
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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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],
"gene_symbol": "DENND3",
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"dbsnp": "rs755533316",
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0556526780128479,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.528,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001362798.2",
"gene_symbol": "DENND3",
"hgnc_id": 29134,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1184C>T",
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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
}