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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: 8-18071253-T-TATC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18071253&ref=T&alt=TATC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18071253,
"ref": "T",
"alt": "TATC",
"effect": "intron_variant",
"transcript": "ENST00000637790.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.216+46_216+47insGAT",
"hgvs_p": null,
"transcript": "NM_177924.5",
"protein_id": "NP_808592.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000637790.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.216+46_216+47insGAT",
"hgvs_p": null,
"transcript": "ENST00000637790.2",
"protein_id": "ENSP00000490272.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_177924.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.264+46_264+47insGAT",
"hgvs_p": null,
"transcript": "ENST00000381733.9",
"protein_id": "ENSP00000371152.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.285+46_285+47insGAT",
"hgvs_p": null,
"transcript": "ENST00000314146.10",
"protein_id": "ENSP00000326970.10",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*734+46_*734+47insGAT",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.264+46_264+47insGAT",
"hgvs_p": null,
"transcript": "NM_004315.6",
"protein_id": "NP_004306.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
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"cds_length": 1236,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.216+46_216+47insGAT",
"hgvs_p": null,
"transcript": "ENST00000637636.1",
"protein_id": "ENSP00000490112.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 393,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.285+46_285+47insGAT",
"hgvs_p": null,
"transcript": "NM_001127505.3",
"protein_id": "NP_001120977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
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"cds_length": 1170,
"cdna_start": null,
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"cdna_length": 2872,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.264+46_264+47insGAT",
"hgvs_p": null,
"transcript": "ENST00000637991.1",
"protein_id": "ENSP00000489901.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 386,
"cds_start": -4,
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},
{
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],
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"gene_symbol": "ASAH1",
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"hgvs_c": "c.216+46_216+47insGAT",
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"transcript": "ENST00000636171.1",
"protein_id": "ENSP00000489761.1",
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},
{
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],
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],
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},
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],
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},
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],
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"gene_symbol": "ASAH1",
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}