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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: 3-184879292-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184879292&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184879292,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000625842.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "NM_001009921.3",
"protein_id": "NP_001009921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": "ENST00000625842.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "ENST00000625842.3",
"protein_id": "ENSP00000487164.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": "NM_001009921.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "ENST00000287546.8",
"protein_id": "ENSP00000287546.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1728+8487A>G",
"hgvs_p": null,
"transcript": "ENST00000446204.6",
"protein_id": "ENSP00000405483.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1336,
"cds_start": -4,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "NM_001349292.2",
"protein_id": "NP_001336221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "NM_001349293.2",
"protein_id": "NP_001336222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "NM_001349294.2",
"protein_id": "NP_001336223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "NM_001349295.1",
"protein_id": "NP_001336224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1729-6818A>G",
"hgvs_p": null,
"transcript": "NM_015303.4",
"protein_id": "NP_056118.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1426,
"cds_start": -4,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1729-6818A>G",
"hgvs_p": null,
"transcript": "ENST00000436792.6",
"protein_id": "ENSP00000404704.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1426,
"cds_start": -4,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1696-6818A>G",
"hgvs_p": null,
"transcript": "NM_001349296.2",
"protein_id": "NP_001336225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1415,
"cds_start": -4,
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"cds_length": 4248,
"cdna_start": null,
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"cdna_length": 4975,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 20,
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"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.-138-6665A>G",
"hgvs_p": null,
"transcript": "NM_001349297.2",
"protein_id": "NP_001336226.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 855,
"cds_start": -4,
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"cds_length": 2568,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.-245-6818A>G",
"hgvs_p": null,
"transcript": "NM_001349298.2",
"protein_id": "NP_001336227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "n.97-3057A>G",
"hgvs_p": null,
"transcript": "ENST00000421069.5",
"protein_id": "ENSP00000400267.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "n.184-6818A>G",
"hgvs_p": null,
"transcript": "ENST00000458721.5",
"protein_id": "ENSP00000409115.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "n.1883-6818A>G",
"hgvs_p": null,
"transcript": "NR_146113.2",
"protein_id": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 22,
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"gene_symbol": "VPS8",
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"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "XM_024453426.2",
"protein_id": "XP_024309194.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 51,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "XM_047447821.1",
"protein_id": "XP_047303777.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 48,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1735-6818A>G",
"hgvs_p": null,
"transcript": "XM_047447822.1",
"protein_id": "XP_047303778.1",
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},
{
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],
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"intron_rank": 21,
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"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1729-6818A>G",
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"transcript": "XM_024453428.2",
"protein_id": "XP_024309196.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "VPS8",
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"hgvs_c": "c.1729-6818A>G",
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"transcript": "XM_047447823.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1729-6818A>G",
"hgvs_p": null,
"transcript": "XM_047447824.1",
"protein_id": "XP_047303780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.1729-6818A>G",
"hgvs_p": null,
"transcript": "XM_047447825.1",
"protein_id": "XP_047303781.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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}