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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: 8-141136755-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141136755&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 141136755,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001362798.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "NM_001352890.3",
"protein_id": "NP_001339819.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1278,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "ENST00000519811.6",
"protein_id": "ENSP00000428714.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 1278,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Met",
"transcript": "ENST00000424248.2",
"protein_id": "ENSP00000410594.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 1146,
"cds_start": 109,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "NM_001362798.2",
"protein_id": "NP_001349727.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1296,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "ENST00000885117.1",
"protein_id": "ENSP00000555176.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1274,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Met",
"transcript": "NM_014957.5",
"protein_id": "NP_055772.3",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1211,
"cds_start": 148,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Met",
"transcript": "ENST00000518668.5",
"protein_id": "ENSP00000428276.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 1202,
"cds_start": 277,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Met",
"transcript": "ENST00000262585.6",
"protein_id": "ENSP00000262585.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 1198,
"cds_start": 109,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "ENST00000523058.5",
"protein_id": "ENSP00000430786.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 290,
"cds_start": 349,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523058.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "ENST00000520986.5",
"protein_id": "ENSP00000429780.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 279,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "NM_001352891.3",
"protein_id": "NP_001339820.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 212,
"cds_start": 349,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352891.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "ENST00000518347.5",
"protein_id": "ENSP00000430695.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 208,
"cds_start": 349,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518347.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Met",
"transcript": "ENST00000519291.5",
"protein_id": "ENSP00000430625.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 123,
"cds_start": 148,
"cds_end": null,
"cds_length": 374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519291.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_011516933.3",
"protein_id": "XP_011515235.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1286,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_005250840.6",
"protein_id": "XP_005250897.3",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1244,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_047421591.1",
"protein_id": "XP_047277547.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1234,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_005250841.5",
"protein_id": "XP_005250898.3",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1226,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_005250842.5",
"protein_id": "XP_005250899.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1218,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_011516934.4",
"protein_id": "XP_011515236.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1217,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_047421592.1",
"protein_id": "XP_047277548.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1208,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_047421593.1",
"protein_id": "XP_047277549.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1200,
"cds_start": 349,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND3",
"gene_hgnc_id": 29134,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_047421594.1",
"protein_id": "XP_047277550.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 1166,
"cds_start": 349,
"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"
},
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"phenotype_combined": "not provided",
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}
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}