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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: 5-119165286-T-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119165286&ref=T&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 119165286,
"ref": "T",
"alt": "TAA",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000539542.6",
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
"hgvs_p": null,
"transcript": "NM_001290321.3",
"protein_id": "NP_001277250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3048,
"cds_start": null,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539542.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290321.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+6_4970+7insAA",
"hgvs_p": null,
"transcript": "ENST00000539542.6",
"protein_id": "ENSP00000439479.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3048,
"cds_start": null,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290321.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539542.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+6_4970+7insAA",
"hgvs_p": null,
"transcript": "ENST00000311085.8",
"protein_id": "ENSP00000309690.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3027,
"cds_start": null,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311085.8"
},
{
"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": 22,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
"hgvs_p": null,
"transcript": "NM_001349239.2",
"protein_id": "NP_001336168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3048,
"cds_start": null,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349239.2"
},
{
"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": 44,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
"hgvs_p": null,
"transcript": "NM_001349240.2",
"protein_id": "NP_001336169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3027,
"cds_start": null,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349240.2"
},
{
"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": 44,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
"hgvs_p": null,
"transcript": "NM_001387933.1",
"protein_id": "NP_001374862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3027,
"cds_start": null,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387933.1"
},
{
"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": 43,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
"hgvs_p": null,
"transcript": "NM_005509.6",
"protein_id": "NP_005500.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3027,
"cds_start": null,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005509.6"
},
{
"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": 43,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
"hgvs_p": null,
"transcript": "NM_001387934.1",
"protein_id": "NP_001374863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2963,
"cds_start": null,
"cds_end": null,
"cds_length": 8892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387934.1"
},
{
"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": 42,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4265+23_4265+24dupAA",
"hgvs_p": null,
"transcript": "NM_001387937.1",
"protein_id": "NP_001374866.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001387937.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.3983+23_3983+24dupAA",
"hgvs_p": null,
"transcript": "NM_001387938.1",
"protein_id": "NP_001374867.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387938.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 21,
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"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4325+6_4325+7insAA",
"hgvs_p": null,
"transcript": "ENST00000939842.1",
"protein_id": "ENSP00000609901.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 46,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.4970+23_4970+24dupAA",
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"transcript": "XM_005271909.5",
"protein_id": "XP_005271966.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 22,
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"gene_symbol": "DMXL1",
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"transcript": "XM_011543213.3",
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},
{
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],
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},
{
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],
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"gene_symbol": "DMXL1",
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"hgvs_c": "c.4970+23_4970+24dupAA",
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},
{
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],
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},
{
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],
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"gene_symbol": "DMXL1",
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"hgvs_c": "c.4772+23_4772+24dupAA",
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"transcript": "XM_005271912.3",
"protein_id": "XP_005271969.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "DMXL1",
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"hgvs_c": "c.4772+23_4772+24dupAA",
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"protein_id": "XP_016864633.1",
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},
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},
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],
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},
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],
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"intron_rank": 21,
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"gene_symbol": "DMXL1",
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"hgvs_c": "c.4772+23_4772+24dupAA",
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"transcript": "XM_047416836.1",
"protein_id": "XP_047272792.1",
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"biotype": "protein_coding",
"feature": "XM_047416836.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 42,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
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"hgvs_c": "c.4970+23_4970+24dupAA",
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{
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}
],
"message": null
}