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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: 4-153531800-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153531800&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153531800,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000409959.8",
"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": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.240-18273C>G",
"hgvs_p": null,
"transcript": "NM_001131007.2",
"protein_id": "NP_001124479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": "ENST00000409959.8",
"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": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.240-18273C>G",
"hgvs_p": null,
"transcript": "ENST00000409959.8",
"protein_id": "ENSP00000386787.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": "NM_001131007.2",
"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": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.240-18273C>G",
"hgvs_p": null,
"transcript": "NM_015196.4",
"protein_id": "NP_056011.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1609,
"cds_start": -4,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5003,
"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": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.240-18273C>G",
"hgvs_p": null,
"transcript": "ENST00000409663.7",
"protein_id": "ENSP00000386574.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1609,
"cds_start": -4,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5017,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "n.196-18273C>G",
"hgvs_p": null,
"transcript": "ENST00000445960.5",
"protein_id": "ENSP00000413054.1",
"transcript_support_level": 4,
"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": 538,
"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": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.327-18273C>G",
"hgvs_p": null,
"transcript": "XM_047449899.1",
"protein_id": "XP_047305855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1658,
"cds_start": -4,
"cds_end": null,
"cds_length": 4977,
"cdna_start": null,
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"cdna_length": 5658,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.327-18273C>G",
"hgvs_p": null,
"transcript": "XM_047449900.1",
"protein_id": "XP_047305856.1",
"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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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.327-18273C>G",
"hgvs_p": null,
"transcript": "XM_047449901.1",
"protein_id": "XP_047305857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5655,
"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": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.327-18273C>G",
"hgvs_p": null,
"transcript": "XM_011531780.2",
"protein_id": "XP_011530082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1639,
"cds_start": -4,
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"cds_length": 4920,
"cdna_start": null,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "TMEM131L",
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"hgvs_c": "c.327-18273C>G",
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"transcript": "XM_011531781.2",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "TMEM131L",
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},
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],
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],
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],
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"gene_symbol": "TMEM131L",
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],
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000409959.8",
"gene_symbol": "TMEM131L",
"hgnc_id": 29146,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.240-18273C>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_939363.3",
"gene_symbol": "LOC105377498",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.174-3707G>C",
"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
}