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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: 10-29471280-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=29471280&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 29471280,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000355867.9",
"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": 38,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5530-37G>A",
"hgvs_p": null,
"transcript": "NM_021738.3",
"protein_id": "NP_068506.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2214,
"cds_start": -4,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8306,
"mane_select": "ENST00000355867.9",
"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": 38,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5530-37G>A",
"hgvs_p": null,
"transcript": "ENST00000355867.9",
"protein_id": "ENSP00000348128.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2214,
"cds_start": -4,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8306,
"mane_select": "NM_021738.3",
"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": 36,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4252-37G>A",
"hgvs_p": null,
"transcript": "ENST00000375400.7",
"protein_id": "ENSP00000364549.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1788,
"cds_start": -4,
"cds_end": null,
"cds_length": 5367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.212-15875C>T",
"hgvs_p": null,
"transcript": "ENST00000413405.7",
"protein_id": null,
"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": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.213-11553C>T",
"hgvs_p": null,
"transcript": "ENST00000414457.7",
"protein_id": null,
"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": 3082,
"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": 37,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5434-37G>A",
"hgvs_p": null,
"transcript": "ENST00000375398.6",
"protein_id": "ENSP00000364547.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2182,
"cds_start": -4,
"cds_end": null,
"cds_length": 6549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8201,
"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": 39,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4600-37G>A",
"hgvs_p": null,
"transcript": "NM_001323599.2",
"protein_id": "NP_001310528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1904,
"cds_start": -4,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7275,
"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": 39,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4600-37G>A",
"hgvs_p": null,
"transcript": "ENST00000674475.1",
"protein_id": "ENSP00000501521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1904,
"cds_start": -4,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7275,
"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": 37,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4348-37G>A",
"hgvs_p": null,
"transcript": "NM_001323600.1",
"protein_id": "NP_001310529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1820,
"cds_start": -4,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6931,
"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": 36,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.4252-37G>A",
"hgvs_p": null,
"transcript": "NM_003174.3",
"protein_id": "NP_003165.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1788,
"cds_start": -4,
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"cds_length": 5367,
"cdna_start": null,
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"cdna_length": 6716,
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.2305-37G>A",
"hgvs_p": null,
"transcript": "ENST00000632315.1",
"protein_id": "ENSP00000488171.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "SVIL-AS1",
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"hgvs_c": "n.183-11553C>T",
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"transcript": "ENST00000423223.7",
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},
{
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],
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"gene_symbol": "SVIL-AS1",
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"hgvs_c": "n.561-11553C>T",
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"transcript": "ENST00000430295.6",
"protein_id": null,
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},
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],
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"gene_symbol": "SVIL-AS1",
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"hgvs_c": "n.431-11553C>T",
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"transcript": "ENST00000446807.6",
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},
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "SVIL-AS1",
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"hgvs_c": "n.184-21683C>T",
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},
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],
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},
{
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "SVIL-AS1",
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"transcript": "ENST00000702276.2",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.123+55868C>T",
"hgvs_p": null,
"transcript": "ENST00000729321.1",
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],
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],
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],
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"gene_symbol": "SVIL-AS1",
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"transcript": "ENST00000729324.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.159-21683C>T",
"hgvs_p": null,
"transcript": "ENST00000729325.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"phenotype_combined": "not provided",
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}
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}