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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: X-66172794-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=66172794&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 66172794,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000343002.7",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "NM_001367233.3",
"protein_id": "NP_001354162.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": "ENST00000343002.7",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "ENST00000343002.7",
"protein_id": "ENSP00000343939.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": "NM_001367233.3",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "ENST00000519389.6",
"protein_id": "ENSP00000430620.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5891,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "ENST00000441993.7",
"protein_id": "ENSP00000411687.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1157,
"cds_start": -4,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4310,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "ENST00000419594.6",
"protein_id": "ENSP00000413211.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3694,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.-390+195C>T",
"hgvs_p": null,
"transcript": "ENST00000336279.9",
"protein_id": "ENSP00000337418.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
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"cdna_length": 4228,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "NM_001367232.3",
"protein_id": "NP_001354161.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "NM_001367234.3",
"protein_id": "NP_001354163.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4251,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.412+195C>T",
"hgvs_p": null,
"transcript": "NM_138737.6",
"protein_id": "NP_620074.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4413,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "HEPH",
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"hgvs_c": "c.412+195C>T",
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"transcript": "NM_001130860.6",
"protein_id": "NP_001124332.2",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "HEPH",
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"hgvs_c": "c.412+195C>T",
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"transcript": "NM_001367236.3",
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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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},
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"transcript": "NM_001367242.2",
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],
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},
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],
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"gene_symbol": "HEPH",
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