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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: 1-109315193-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109315193&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SORT1",
"hgnc_id": 11186,
"hgvs_c": "c.2251-415T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_002959.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 5898,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 831,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6990,
"cdna_start": null,
"cds_end": null,
"cds_length": 2496,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002959.7",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2251-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000256637.8",
"protein_coding": true,
"protein_id": "NP_002950.3",
"strand": false,
"transcript": "NM_002959.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 831,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6990,
"cdna_start": null,
"cds_end": null,
"cds_length": 2496,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000256637.8",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2251-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002959.7",
"protein_coding": true,
"protein_id": "ENSP00000256637.6",
"strand": false,
"transcript": "ENST00000256637.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 870,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": null,
"cds_end": null,
"cds_length": 2613,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902724.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2368-415T>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572783.1",
"strand": false,
"transcript": "ENST00000902724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 869,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7093,
"cdna_start": null,
"cds_end": null,
"cds_length": 2610,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957898.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2365-415T>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627957.1",
"strand": false,
"transcript": "ENST00000957898.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 849,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6973,
"cdna_start": null,
"cds_end": null,
"cds_length": 2550,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934843.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2305-415T>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604902.1",
"strand": false,
"transcript": "ENST00000934843.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902725.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2302-415T>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572784.1",
"strand": false,
"transcript": "ENST00000902725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 837,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": null,
"cds_end": null,
"cds_length": 2514,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902726.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2269-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572785.1",
"strand": false,
"transcript": "ENST00000902726.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 821,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": null,
"cds_end": null,
"cds_length": 2466,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957902.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2221-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627961.1",
"strand": false,
"transcript": "ENST00000957902.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 811,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6927,
"cdna_start": null,
"cds_end": null,
"cds_length": 2436,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934841.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2191-415T>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604900.1",
"strand": false,
"transcript": "ENST00000934841.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 802,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6887,
"cdna_start": null,
"cds_end": null,
"cds_length": 2409,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934842.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2164-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604901.1",
"strand": false,
"transcript": "ENST00000934842.1",
"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": 20,
"exon_rank": null,
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"feature": "ENST00000957899.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2161-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627958.1",
"strand": false,
"transcript": "ENST00000957899.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000957901.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2134-415T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627960.1",
"strand": false,
"transcript": "ENST00000957901.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000902727.1",
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"gene_symbol": "SORT1",
"hgvs_c": "c.2110-415T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572786.1",
"strand": false,
"transcript": "ENST00000902727.1",
"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": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934844.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2011-415T>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604903.1",
"strand": false,
"transcript": "ENST00000934844.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001205228.2",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.1840-415T>G",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001192157.1",
"strand": false,
"transcript": "NM_001205228.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6993,
"cdna_start": null,
"cds_end": null,
"cds_length": 2085,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000538502.5",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.1840-415T>G",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438597.1",
"strand": false,
"transcript": "ENST00000538502.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": null,
"cds_end": null,
"cds_length": 1833,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957900.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.1588-415T>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627959.1",
"strand": false,
"transcript": "ENST00000957900.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "XM_005271100.3",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.2248-415T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005271157.1",
"strand": false,
"transcript": "XM_005271100.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "XM_005271101.4",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "c.1843-415T>G",
"hgvs_p": null,
"intron_rank": 17,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005271158.1",
"strand": false,
"transcript": "XM_005271101.4",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000485149.1",
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"hgvs_c": "n.79-415T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485149.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs17585355",
"effect": "intron_variant",
"frequency_reference_population": 0.038720604,
"gene_hgnc_id": 11186,
"gene_symbol": "SORT1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 5898,
"gnomad_genomes_af": 0.0387206,
"gnomad_genomes_homalt": 183,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 183,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.039,
"pos": 109315193,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002959.7"
}
]
}