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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: 5-37164266-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37164266&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37164266,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000651892.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "NM_001384732.1",
"protein_id": "NP_001371661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3251,
"cds_start": -4,
"cds_end": null,
"cds_length": 9756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "ENST00000651892.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "ENST00000651892.2",
"protein_id": "ENSP00000498265.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3251,
"cds_start": -4,
"cds_end": null,
"cds_length": 9756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "NM_001384732.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.4732+7A>G",
"hgvs_p": null,
"transcript": "ENST00000514429.5",
"protein_id": "ENSP00000424223.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2263,
"cds_start": -4,
"cds_end": null,
"cds_length": 6792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.4600+7A>G",
"hgvs_p": null,
"transcript": "ENST00000509849.5",
"protein_id": "ENSP00000426337.1",
"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": 7392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.1926A>G",
"hgvs_p": null,
"transcript": "ENST00000675149.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "NM_023073.4",
"protein_id": "NP_075561.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3197,
"cds_start": -4,
"cds_end": null,
"cds_length": 9594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "ENST00000508244.5",
"protein_id": "ENSP00000421690.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3197,
"cds_start": -4,
"cds_end": null,
"cds_length": 9594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "XM_011514085.4",
"protein_id": "XP_011512387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3251,
"cds_start": -4,
"cds_end": null,
"cds_length": 9756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "XM_011514086.4",
"protein_id": "XP_011512388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3251,
"cds_start": -4,
"cds_end": null,
"cds_length": 9756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_005248346.5",
"protein_id": "XP_005248403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3250,
"cds_start": -4,
"cds_end": null,
"cds_length": 9753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_005248347.5",
"protein_id": "XP_005248404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3250,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_047417541.1",
"protein_id": "XP_047273497.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
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"transcript": "XM_047417542.1",
"protein_id": "XP_047273498.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 3250,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
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"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
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"transcript": "XM_047417543.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_047417544.1",
"protein_id": "XP_047273500.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7582+7A>G",
"hgvs_p": null,
"transcript": "XM_006714491.4",
"protein_id": "XP_006714554.2",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "XM_011514087.3",
"protein_id": "XP_011512389.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "XM_047417545.1",
"protein_id": "XP_047273501.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_047417547.1",
"protein_id": "XP_047273503.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_047417548.1",
"protein_id": "XP_047273504.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 53,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7585+7A>G",
"hgvs_p": null,
"transcript": "XM_047417549.1",
"protein_id": "XP_047273505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3232,
"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,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7588+7A>G",
"hgvs_p": null,
"transcript": "XM_011514088.3",
"protein_id": "XP_011512390.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 3215,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
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{
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"clinvar_disease": "Joubert syndrome and related disorders,Orofaciodigital syndrome type 6,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1 US:1",
"phenotype_combined": "Orofaciodigital syndrome type 6|not provided|Joubert syndrome and related disorders",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
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}