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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: 8-18084711-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18084711&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18084711,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004315.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000381733.9",
"protein_id": "ENSP00000371152.4",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 411,
"cds_start": 91,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381733.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000314146.10",
"protein_id": "ENSP00000326970.10",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 389,
"cds_start": 91,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314146.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637244.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "NM_004315.6",
"protein_id": "NP_004306.3",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 411,
"cds_start": 91,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004315.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "NM_001127505.3",
"protein_id": "NP_001120977.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 389,
"cds_start": 91,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127505.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000637991.1",
"protein_id": "ENSP00000489901.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 386,
"cds_start": 91,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637991.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000636455.1",
"protein_id": "ENSP00000490502.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 341,
"cds_start": 91,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636455.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000636537.1",
"protein_id": "ENSP00000489914.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 191,
"cds_start": 91,
"cds_end": null,
"cds_length": 576,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636537.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000637536.1",
"protein_id": "ENSP00000490464.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 186,
"cds_start": 91,
"cds_end": null,
"cds_length": 561,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637536.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000637792.1",
"protein_id": "ENSP00000490423.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 139,
"cds_start": 91,
"cds_end": null,
"cds_length": 422,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1-AS1",
"gene_hgnc_id": 55603,
"hgvs_c": "n.342T>C",
"hgvs_p": null,
"transcript": "ENST00000505114.7",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505114.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1-AS1",
"gene_hgnc_id": 55603,
"hgvs_c": "n.326T>C",
"hgvs_p": null,
"transcript": "ENST00000517798.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000517798.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000520051.2",
"protein_id": "ENSP00000490132.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520051.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1-AS1",
"gene_hgnc_id": 55603,
"hgvs_c": "n.301T>C",
"hgvs_p": null,
"transcript": "ENST00000521775.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521775.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000636050.1",
"protein_id": "ENSP00000490562.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000636299.1",
"protein_id": "ENSP00000490202.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636299.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000636715.1",
"protein_id": "ENSP00000490876.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.219A>G",
"hgvs_p": null,
"transcript": "ENST00000636828.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000636828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000637013.1",
"protein_id": "ENSP00000490596.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000637429.1",
"protein_id": "ENSP00000490522.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000637484.1",
"protein_id": "ENSP00000490837.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.91A>G",
"hgvs_p": null,
"transcript": "ENST00000637805.1",
"protein_id": "ENSP00000489884.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637805.1"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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],
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"phenotype_combined": "not provided|ASAH1-related disorders",
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"custom_annotations": null
}
],
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}