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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: 11-72196122-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72196122&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72196122,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000393676.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "NM_016729.3",
"protein_id": "NP_057941.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 930,
"mane_select": "ENST00000393676.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000393676.5",
"protein_id": "ENSP00000377281.3",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 930,
"mane_select": "NM_016729.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000312293.9",
"protein_id": "ENSP00000308137.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000393679.5",
"protein_id": "ENSP00000377284.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000393681.6",
"protein_id": "ENSP00000377286.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "NM_000802.3",
"protein_id": "NP_000793.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "NM_016724.3",
"protein_id": "NP_057936.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "NM_016725.3",
"protein_id": "NP_057937.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000675784.1",
"protein_id": "ENSP00000502440.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 945,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000204971",
"gene_hgnc_id": 58347,
"hgvs_c": "n.419+2391G>A",
"hgvs_p": null,
"transcript": "ENST00000378140.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 477,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000204971",
"gene_hgnc_id": 58347,
"hgvs_c": "n.217+12925G>A",
"hgvs_p": null,
"transcript": "ENST00000824615.1",
"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": 675,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOLR1-AS1",
"gene_hgnc_id": 58347,
"hgvs_c": "n.419+2391G>A",
"hgvs_p": null,
"transcript": "NR_199595.1",
"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": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOLR1",
"gene_hgnc_id": 3791,
"dbsnp": "rs147155003",
"frequency_reference_population": 0.0001982551,
"hom_count_reference_population": 0,
"allele_count_reference_population": 320,
"gnomad_exomes_af": 0.000208635,
"gnomad_genomes_af": 0.0000985532,
"gnomad_exomes_ac": 305,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03487730026245117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.0837,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.278,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393676.5",
"gene_symbol": "FOLR1",
"hgnc_id": 3791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378140.3",
"gene_symbol": "ENSG00000204971",
"hgnc_id": 58347,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.419+2391G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_199595.1",
"gene_symbol": "FOLR1-AS1",
"hgnc_id": 58347,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.419+2391G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cerebral folate transport deficiency,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "Cerebral folate transport deficiency|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}