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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: 1-218346056-GCACACACACACACACA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=218346056&ref=GCACACACACACACACA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 218346056,
"ref": "GCACACACACACACACA",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001135599.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.-636_-621delACACACACACACACAC",
"hgvs_p": null,
"transcript": "NM_003238.6",
"protein_id": "NP_003229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366930.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003238.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.-636_-621delACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000366930.9",
"protein_id": "ENSP00000355897.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003238.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366930.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.-636_-621delACACACACACACACAC",
"hgvs_p": null,
"transcript": "NM_001135599.4",
"protein_id": "NP_001129071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135599.4"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "n.731_746delACACACACACACACAC",
"hgvs_p": null,
"transcript": "NR_138148.2",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138148.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "n.731_746delACACACACACACACAC",
"hgvs_p": null,
"transcript": "NR_138149.2",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138149.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.239-684_239-669delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774588.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774588.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.32-684_32-669delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774589.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774589.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.34+1557_34+1572delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774590.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774590.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.132+151_132+166delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774591.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774591.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.130+151_130+166delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774592.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774592.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.259+22_259+37delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774593.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000774593.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.262+18_262+33delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774594.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000774594.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "TGFB2-AS1",
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"hgvs_c": "n.256+18_256+33delTGTGTGTGTGTGTGTG",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"biotype": "pseudogene",
"feature": "ENST00000774596.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.124+151_124+166delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774597.1",
"protein_id": null,
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},
{
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"strand": false,
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],
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"gene_symbol": "TGFB2-AS1",
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"feature": "ENST00000774598.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.123+151_123+166delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774599.1",
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"feature": "ENST00000774599.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.256+18_256+33delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774600.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TGFB2-AS1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
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"feature": "ENST00000774602.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.148+18_148+33delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774603.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000774603.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.100+20_100+35delTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000774604.1",
"protein_id": null,
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{
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}
],
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}