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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: X-107533543-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=107533543&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 107533543,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032428.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Thr97Ser",
"transcript": "NM_001388459.1",
"protein_id": "NP_001375388.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1777,
"cds_start": 290,
"cds_end": null,
"cds_length": 5334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683843.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388459.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Thr97Ser",
"transcript": "ENST00000683843.1",
"protein_id": "ENSP00000507942.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1777,
"cds_start": 290,
"cds_end": null,
"cds_length": 5334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388459.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683843.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.389C>G",
"hgvs_p": "p.Thr130Ser",
"transcript": "NM_032428.2",
"protein_id": "NP_115804.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1810,
"cds_start": 389,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032428.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Thr97Ser",
"transcript": "ENST00000276185.9",
"protein_id": "ENSP00000276185.5",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 1777,
"cds_start": 290,
"cds_end": null,
"cds_length": 5334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276185.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Thr78Ser",
"transcript": "ENST00000439554.1",
"protein_id": "ENSP00000398668.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 1758,
"cds_start": 233,
"cds_end": null,
"cds_length": 5277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439554.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Thr97Ser",
"transcript": "XM_017029902.3",
"protein_id": "XP_016885391.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1747,
"cds_start": 290,
"cds_end": null,
"cds_length": 5244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029902.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.-109+3032C>G",
"hgvs_p": null,
"transcript": "NM_001388462.1",
"protein_id": "NP_001375391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1642,
"cds_start": null,
"cds_end": null,
"cds_length": 4929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.-108-12194C>G",
"hgvs_p": null,
"transcript": "ENST00000684358.1",
"protein_id": "ENSP00000507422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1642,
"cds_start": null,
"cds_end": null,
"cds_length": 4929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684358.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "c.-7+3032C>G",
"hgvs_p": null,
"transcript": "XM_006724709.4",
"protein_id": "XP_006724772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1605,
"cds_start": null,
"cds_end": null,
"cds_length": 4818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724709.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"hgvs_c": "n.290C>G",
"hgvs_p": null,
"transcript": "ENST00000683424.1",
"protein_id": "ENSP00000508035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683424.1"
},
{
"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": "FRMPD3-AS1",
"gene_hgnc_id": 41239,
"hgvs_c": "n.508+12172G>C",
"hgvs_p": null,
"transcript": "ENST00000415252.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415252.2"
},
{
"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": "FRMPD3-AS1",
"gene_hgnc_id": 41239,
"hgvs_c": "n.380+12172G>C",
"hgvs_p": null,
"transcript": "ENST00000835932.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835932.1"
},
{
"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": "FRMPD3-AS1",
"gene_hgnc_id": 41239,
"hgvs_c": "n.476+12172G>C",
"hgvs_p": null,
"transcript": "ENST00000835933.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835933.1"
},
{
"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": "FRMPD3-AS1",
"gene_hgnc_id": 41239,
"hgvs_c": "n.371+12172G>C",
"hgvs_p": null,
"transcript": "ENST00000835934.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000835934.1"
},
{
"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": "FRMPD3-AS1",
"gene_hgnc_id": 41239,
"hgvs_c": "n.107+12172G>C",
"hgvs_p": null,
"transcript": "NR_046750.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046750.1"
}
],
"gene_symbol": "FRMPD3",
"gene_hgnc_id": 29382,
"dbsnp": "rs183796305",
"frequency_reference_population": 0.00006391473,
"hom_count_reference_population": 20,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000640735,
"gnomad_genomes_af": 0.0000623691,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10244059562683105,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.1157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.592,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032428.2",
"gene_symbol": "FRMPD3",
"hgnc_id": 29382,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.389C>G",
"hgvs_p": "p.Thr130Ser"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000415252.2",
"gene_symbol": "FRMPD3-AS1",
"hgnc_id": 41239,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.508+12172G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}