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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: 6-135051938-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135051938&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "HBS1L",
"hgnc_id": 4834,
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006620.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7099999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 684,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7087,
"cdna_start": null,
"cds_end": null,
"cds_length": 2055,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006620.4",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367837.10",
"protein_coding": true,
"protein_id": "NP_006611.1",
"strand": false,
"transcript": "NM_006620.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 684,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7087,
"cdna_start": null,
"cds_end": null,
"cds_length": 2055,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367837.10",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006620.4",
"protein_coding": true,
"protein_id": "ENSP00000356811.5",
"strand": false,
"transcript": "ENST00000367837.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 632,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": null,
"cds_end": null,
"cds_length": 1899,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367822.9",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356796.5",
"strand": false,
"transcript": "ENST00000367822.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 690,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": null,
"cds_end": null,
"cds_length": 2073,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949311.1",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619370.1",
"strand": false,
"transcript": "ENST00000949311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881131.1",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551190.1",
"strand": false,
"transcript": "ENST00000881131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 682,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": null,
"cds_end": null,
"cds_length": 2049,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919570.1",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589629.1",
"strand": false,
"transcript": "ENST00000919570.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 661,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2764,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949313.1",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619372.1",
"strand": false,
"transcript": "ENST00000949313.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 642,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6961,
"cdna_start": null,
"cds_end": null,
"cds_length": 1929,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145158.2",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138630.1",
"strand": false,
"transcript": "NM_001145158.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 642,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": null,
"cds_end": null,
"cds_length": 1929,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367826.6",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356800.2",
"strand": false,
"transcript": "ENST00000367826.6",
"transcript_support_level": 2
},
{
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"aa_length": 635,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949314.1",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000619373.1",
"strand": false,
"transcript": "ENST00000949314.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "NM_001145207.2",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001138679.1",
"strand": false,
"transcript": "NM_001145207.2",
"transcript_support_level": null
},
{
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"cds_end": null,
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],
"exon_count": 17,
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"feature": "ENST00000415177.6",
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"protein_coding": true,
"protein_id": "ENSP00000389826.2",
"strand": false,
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},
{
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],
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"feature": "ENST00000949312.1",
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"protein_coding": true,
"protein_id": "ENSP00000619371.1",
"strand": false,
"transcript": "ENST00000949312.1",
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},
{
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "NM_001363686.2",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.-595-1291C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350615.1",
"strand": false,
"transcript": "NM_001363686.2",
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},
{
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],
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"feature": "ENST00000314674.7",
"gene_hgnc_id": 4834,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000323566.3",
"strand": false,
"transcript": "ENST00000314674.7",
"transcript_support_level": 5
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000529882.5",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.89-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000433030.1",
"strand": false,
"transcript": "ENST00000529882.5",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000367820.6",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
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"transcript": "ENST00000367820.6",
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},
{
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],
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"feature": "ENST00000524715.5",
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"transcript": "ENST00000524715.5",
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},
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],
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"feature": "ENST00000525067.1",
"gene_hgnc_id": 4834,
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"strand": false,
"transcript": "ENST00000525067.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "XM_047418093.1",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047274049.1",
"strand": false,
"transcript": "XM_047418093.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010192.2",
"gene_hgnc_id": 4834,
"gene_symbol": "HBS1L",
"hgvs_c": "c.44-1291C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865681.1",
"strand": false,
"transcript": "XM_017010192.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1041480",
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"phylop100way_prediction": "Benign",
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"splice_prediction_selected": "Benign",
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"transcript": "NM_006620.4"
}
]
}