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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: 11-72195359-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72195359&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "FOLR1",
"hgnc_id": 3791,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000802.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000204971",
"hgnc_id": 58347,
"hgvs_c": "n.419+3154C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000378140.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FOLR1-AS1",
"hgnc_id": 58347,
"hgvs_c": "n.419+3154C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "NR_199595.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Cerebral folate transport deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": 291,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_016729.3",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393676.5",
"protein_coding": true,
"protein_id": "NP_057941.1",
"strand": true,
"transcript": "NM_016729.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": 291,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393676.5",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016729.3",
"protein_coding": true,
"protein_id": "ENSP00000377281.3",
"strand": true,
"transcript": "ENST00000393676.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 467,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000312293.9",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308137.4",
"strand": true,
"transcript": "ENST00000312293.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1331,
"cdna_start": 693,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000393679.5",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377284.1",
"strand": true,
"transcript": "ENST00000393679.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 423,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393681.6",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377286.2",
"strand": true,
"transcript": "ENST00000393681.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 282,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000802.3",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000793.1",
"strand": true,
"transcript": "NM_000802.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": 382,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016724.3",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057936.1",
"strand": true,
"transcript": "NM_016724.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 316,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016725.3",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057937.1",
"strand": true,
"transcript": "NM_016725.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 282,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675784.1",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502440.1",
"strand": true,
"transcript": "ENST00000675784.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 458,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893310.1",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563369.1",
"strand": true,
"transcript": "ENST00000893310.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 257,
"aa_ref": "W",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 447,
"cds_end": null,
"cds_length": 774,
"cds_start": 257,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893311.1",
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Trp86*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563370.1",
"strand": true,
"transcript": "ENST00000893311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378140.3",
"gene_hgnc_id": 58347,
"gene_symbol": "ENSG00000204971",
"hgvs_c": "n.419+3154C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000378140.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000824615.1",
"gene_hgnc_id": 58347,
"gene_symbol": "ENSG00000204971",
"hgvs_c": "n.217+13688C>T",
"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": "ENST00000824615.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_199595.1",
"gene_hgnc_id": 58347,
"gene_symbol": "FOLR1-AS1",
"hgvs_c": "n.419+3154C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_199595.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555069069",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 3791,
"gene_symbol": "FOLR1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Cerebral folate transport deficiency",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.705,
"pos": 72195359,
"ref": "G",
"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_000802.3"
}
]
}