← Back to variant description
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: 15-100569329-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=100569329&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 100569329,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040616.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Lys728Arg",
"transcript": "NM_001040616.3",
"protein_id": "NP_001035706.2",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 757,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": "ENST00000314742.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Lys728Arg",
"transcript": "ENST00000314742.13",
"protein_id": "ENSP00000318423.8",
"transcript_support_level": 5,
"aa_start": 728,
"aa_end": null,
"aa_length": 757,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": "NM_001040616.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2030A>G",
"hgvs_p": "p.Lys677Arg",
"transcript": "NM_001352508.2",
"protein_id": "NP_001339437.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 706,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1436A>G",
"hgvs_p": "p.Lys479Arg",
"transcript": "NM_001352507.2",
"protein_id": "NP_001339436.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 508,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Lys728Arg",
"transcript": "XM_005254941.3",
"protein_id": "XP_005254998.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 757,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 4759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Lys728Arg",
"transcript": "XM_024449980.2",
"protein_id": "XP_024305748.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 757,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Lys692Arg",
"transcript": "XM_005254943.3",
"protein_id": "XP_005255000.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 721,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Lys692Arg",
"transcript": "XM_047432784.1",
"protein_id": "XP_047288740.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 721,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Lys692Arg",
"transcript": "XM_047432785.1",
"protein_id": "XP_047288741.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 721,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 3131,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "c.1436A>G",
"hgvs_p": "p.Lys479Arg",
"transcript": "XM_017022399.3",
"protein_id": "XP_016877888.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 508,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4121,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2458A>G",
"hgvs_p": null,
"transcript": "ENST00000559169.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2552,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2306A>G",
"hgvs_p": null,
"transcript": "NR_148017.2",
"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": 4711,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2294A>G",
"hgvs_p": null,
"transcript": "NR_148018.2",
"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": 4699,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.3589A>G",
"hgvs_p": null,
"transcript": "NR_148019.2",
"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": 5994,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.2452A>G",
"hgvs_p": null,
"transcript": "XR_007064471.1",
"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": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"hgvs_c": "n.191-4064A>G",
"hgvs_p": null,
"transcript": "ENST00000560783.1",
"protein_id": "ENSP00000474128.1",
"transcript_support_level": 5,
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LINS1",
"gene_hgnc_id": 30922,
"dbsnp": "rs2037669614",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040150225162506104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0733,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.788,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001040616.3",
"gene_symbol": "LINS1",
"hgnc_id": 30922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Lys728Arg"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}