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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: 3-58110138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58110138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58110138,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000295956.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "NM_001457.4",
"protein_id": "NP_001448.2",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 2602,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 9441,
"mane_select": "ENST00000295956.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "ENST00000295956.9",
"protein_id": "ENSP00000295956.5",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 2602,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 9441,
"mane_select": "NM_001457.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "ENST00000490882.5",
"protein_id": "ENSP00000420213.1",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 2633,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7902,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "ENST00000429972.6",
"protein_id": "ENSP00000415599.2",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 2591,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7776,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 9430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "ENST00000358537.7",
"protein_id": "ENSP00000351339.3",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 2578,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 9391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Arg649*",
"transcript": "ENST00000493452.5",
"protein_id": "ENSP00000418510.1",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 2409,
"cds_start": 1945,
"cds_end": null,
"cds_length": 7230,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 7402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "NM_001164317.2",
"protein_id": "NP_001157789.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 2633,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7902,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 9534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "NM_001164318.2",
"protein_id": "NP_001157790.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 2591,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7776,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 9408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "NM_001164319.2",
"protein_id": "NP_001157791.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 2578,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*",
"transcript": "ENST00000682871.1",
"protein_id": "ENSP00000507805.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 2562,
"cds_start": 2452,
"cds_end": null,
"cds_length": 7689,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 9313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.2595C>T",
"hgvs_p": null,
"transcript": "ENST00000682868.1",
"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": 9635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*984C>T",
"hgvs_p": null,
"transcript": "ENST00000684107.1",
"protein_id": "ENSP00000507440.1",
"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": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*984C>T",
"hgvs_p": null,
"transcript": "ENST00000684506.1",
"protein_id": "ENSP00000507728.1",
"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": 9552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*984C>T",
"hgvs_p": null,
"transcript": "ENST00000684517.1",
"protein_id": "ENSP00000507828.1",
"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": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.2452C>T",
"hgvs_p": null,
"transcript": "ENST00000684607.1",
"protein_id": "ENSP00000508224.1",
"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": 9338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*984C>T",
"hgvs_p": null,
"transcript": "ENST00000684107.1",
"protein_id": "ENSP00000507440.1",
"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": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*984C>T",
"hgvs_p": null,
"transcript": "ENST00000684506.1",
"protein_id": "ENSP00000507728.1",
"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": 9552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*984C>T",
"hgvs_p": null,
"transcript": "ENST00000684517.1",
"protein_id": "ENSP00000507828.1",
"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": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"dbsnp": "rs80356519",
"frequency_reference_population": 0.0000061956257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615643,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.078,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000295956.9",
"gene_symbol": "FLNB",
"hgnc_id": 3755,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Arg818*"
}
],
"clinvar_disease": "Spondylocarpotarsal synostosis syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Spondylocarpotarsal synostosis syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}