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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: 1-109342016-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109342016&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109342016,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002959.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val",
"transcript": "NM_002959.7",
"protein_id": "NP_002950.3",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 831,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256637.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002959.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val",
"transcript": "ENST00000256637.8",
"protein_id": "ENSP00000256637.6",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 831,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002959.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256637.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1223G>T",
"hgvs_p": "p.Gly408Val",
"transcript": "ENST00000902724.1",
"protein_id": "ENSP00000572783.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 870,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902724.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1220G>T",
"hgvs_p": "p.Gly407Val",
"transcript": "ENST00000957898.1",
"protein_id": "ENSP00000627957.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 869,
"cds_start": 1220,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957898.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val",
"transcript": "ENST00000934843.1",
"protein_id": "ENSP00000604902.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 849,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934843.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1103G>T",
"hgvs_p": "p.Gly368Val",
"transcript": "ENST00000902725.1",
"protein_id": "ENSP00000572784.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 848,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902725.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1124G>T",
"hgvs_p": "p.Gly375Val",
"transcript": "ENST00000902726.1",
"protein_id": "ENSP00000572785.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 837,
"cds_start": 1124,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902726.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val",
"transcript": "ENST00000957902.1",
"protein_id": "ENSP00000627961.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 821,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957902.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1046G>T",
"hgvs_p": "p.Gly349Val",
"transcript": "ENST00000934841.1",
"protein_id": "ENSP00000604900.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 811,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934841.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val",
"transcript": "ENST00000934842.1",
"protein_id": "ENSP00000604901.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 802,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934842.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1103G>T",
"hgvs_p": "p.Gly368Val",
"transcript": "ENST00000957899.1",
"protein_id": "ENSP00000627958.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 801,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957899.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val",
"transcript": "ENST00000957901.1",
"protein_id": "ENSP00000627960.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 792,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957901.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Gly322Val",
"transcript": "ENST00000902727.1",
"protein_id": "ENSP00000572786.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 784,
"cds_start": 965,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902727.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Gly289Val",
"transcript": "ENST00000934844.1",
"protein_id": "ENSP00000604903.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 751,
"cds_start": 866,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934844.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Gly232Val",
"transcript": "NM_001205228.2",
"protein_id": "NP_001192157.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 694,
"cds_start": 695,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205228.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Gly232Val",
"transcript": "ENST00000538502.5",
"protein_id": "ENSP00000438597.1",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 694,
"cds_start": 695,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538502.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.1103G>T",
"hgvs_p": "p.Gly368Val",
"transcript": "XM_005271100.3",
"protein_id": "XP_005271157.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 830,
"cds_start": 1103,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271100.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Gly233Val",
"transcript": "XM_005271101.4",
"protein_id": "XP_005271158.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 695,
"cds_start": 698,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271101.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"hgvs_c": "c.708+12351G>T",
"hgvs_p": null,
"transcript": "ENST00000957900.1",
"protein_id": "ENSP00000627959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957900.1"
}
],
"gene_symbol": "SORT1",
"gene_hgnc_id": 11186,
"dbsnp": "rs1443968906",
"frequency_reference_population": 0.000028744482,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000287445,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7942280769348145,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7160000205039978,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.467,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8906,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.027,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.970866980577202,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002959.7",
"gene_symbol": "SORT1",
"hgnc_id": 11186,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1106G>T",
"hgvs_p": "p.Gly369Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}