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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: 14-85622626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=85622626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 85622626,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013231.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "NM_013231.6",
"protein_id": "NP_037363.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330753.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013231.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000330753.6",
"protein_id": "ENSP00000332879.4",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013231.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330753.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000554746.1",
"protein_id": "ENSP00000451050.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554746.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "NM_001346143.2",
"protein_id": "NP_001333072.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346143.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "NM_001346144.2",
"protein_id": "NP_001333073.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346144.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "NM_001346145.2",
"protein_id": "NP_001333074.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346145.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "NM_001346146.2",
"protein_id": "NP_001333075.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346146.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000682132.1",
"protein_id": "ENSP00000507088.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682132.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000683129.1",
"protein_id": "ENSP00000507815.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683129.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000892892.1",
"protein_id": "ENSP00000562951.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892892.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000892893.1",
"protein_id": "ENSP00000562952.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892893.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000892894.1",
"protein_id": "ENSP00000562953.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892894.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000956277.1",
"protein_id": "ENSP00000626336.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956277.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000956278.1",
"protein_id": "ENSP00000626337.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956278.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "XM_047431176.1",
"protein_id": "XP_047287132.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 660,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431176.1"
}
],
"gene_symbol": "FLRT2",
"gene_hgnc_id": 3761,
"dbsnp": "rs1566763418",
"frequency_reference_population": 0.0000018590379,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136826,
"gnomad_genomes_af": 0.00000657774,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2610655426979065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.0986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.117,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013231.6",
"gene_symbol": "FLRT2",
"hgnc_id": 3761,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile"
}
],
"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
}