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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: 2-33241416-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=33241416&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 33241416,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_206943.4",
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "NM_206943.4",
"protein_id": "NP_996826.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": null,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404816.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206943.4"
},
{
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000404816.7",
"protein_id": "ENSP00000386043.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": null,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206943.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404816.7"
},
{
"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": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.899-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000407925.5",
"protein_id": "ENSP00000384091.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": null,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407925.5"
},
{
"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": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.899-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000418533.6",
"protein_id": "ENSP00000393057.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": null,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418533.6"
},
{
"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": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.899-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000404525.5",
"protein_id": "ENSP00000385359.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404525.5"
},
{
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929169.1",
"protein_id": "ENSP00000599228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1749,
"cds_start": null,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929169.1"
},
{
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000954823.1",
"protein_id": "ENSP00000624882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1720,
"cds_start": null,
"cds_end": null,
"cds_length": 5163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954823.1"
},
{
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929163.1",
"protein_id": "ENSP00000599222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1719,
"cds_start": null,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929163.1"
},
{
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929162.1",
"protein_id": "ENSP00000599221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1693,
"cds_start": null,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929162.1"
},
{
"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": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1790-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929171.1",
"protein_id": "ENSP00000599230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": null,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929171.1"
},
{
"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": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000954822.1",
"protein_id": "ENSP00000624881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1681,
"cds_start": null,
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"cds_length": 5046,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954822.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929166.1",
"protein_id": "ENSP00000599225.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1678,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000929166.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000892679.1",
"protein_id": "ENSP00000562738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1669,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000892679.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 9,
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"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
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"transcript": "NM_001394905.1",
"protein_id": "NP_001381834.1",
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"biotype": "protein_coding",
"feature": "NM_001394905.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000892677.1",
"protein_id": "ENSP00000562736.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1668,
"cds_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892677.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "LTBP1",
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"hgvs_c": "c.1877-2246A>G",
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"transcript": "ENST00000929172.1",
"protein_id": "ENSP00000599231.1",
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"biotype": "protein_coding",
"feature": "ENST00000929172.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1709-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929160.1",
"protein_id": "ENSP00000599219.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 1665,
"cds_start": null,
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"cds_length": 4998,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929160.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929167.1",
"protein_id": "ENSP00000599226.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
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"hgvs_c": "c.1877-2246A>G",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
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"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929170.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000929161.1",
"protein_id": "ENSP00000599220.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929161.1"
},
{
"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": 33,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1709-2246A>G",
"hgvs_p": null,
"transcript": "ENST00000892678.1",
"protein_id": "ENSP00000562737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
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"cds_length": 4839,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"verdict": "Benign",
"transcript": "NM_206943.4",
"gene_symbol": "LTBP1",
"hgnc_id": 6714,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1877-2246A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}