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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: 5-80541810-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80541810&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80541810,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_205548.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.809T>A",
"hgvs_p": "p.Ile270Asn",
"transcript": "NM_205548.3",
"protein_id": "NP_991111.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 276,
"cds_start": 809,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282226.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205548.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.809T>A",
"hgvs_p": "p.Ile270Asn",
"transcript": "ENST00000282226.5",
"protein_id": "ENSP00000282226.4",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 276,
"cds_start": 809,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_205548.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282226.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.683T>A",
"hgvs_p": "p.Ile228Asn",
"transcript": "ENST00000869019.1",
"protein_id": "ENSP00000539078.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 234,
"cds_start": 683,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869019.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.857T>A",
"hgvs_p": "p.Ile286Asn",
"transcript": "XM_011543234.3",
"protein_id": "XP_011541536.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 292,
"cds_start": 857,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543234.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.806T>A",
"hgvs_p": "p.Ile269Asn",
"transcript": "XM_006714564.4",
"protein_id": "XP_006714627.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 275,
"cds_start": 806,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714564.4"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.761T>A",
"hgvs_p": "p.Ile254Asn",
"transcript": "XM_017009166.2",
"protein_id": "XP_016864655.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 260,
"cds_start": 761,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009166.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.761T>A",
"hgvs_p": "p.Ile254Asn",
"transcript": "XM_017009167.2",
"protein_id": "XP_016864656.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 260,
"cds_start": 761,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009167.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.683T>A",
"hgvs_p": "p.Ile228Asn",
"transcript": "XM_011543235.3",
"protein_id": "XP_011541537.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 234,
"cds_start": 683,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543235.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.647T>A",
"hgvs_p": "p.Ile216Asn",
"transcript": "XM_011543236.3",
"protein_id": "XP_011541538.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 222,
"cds_start": 647,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543236.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.647T>A",
"hgvs_p": "p.Ile216Asn",
"transcript": "XM_047416868.1",
"protein_id": "XP_047272824.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 222,
"cds_start": 647,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416868.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "c.509T>A",
"hgvs_p": "p.Ile170Asn",
"transcript": "XM_011543237.3",
"protein_id": "XP_011541539.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 176,
"cds_start": 509,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543237.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM151B",
"gene_hgnc_id": 33716,
"hgvs_c": "n.1953T>A",
"hgvs_p": null,
"transcript": "ENST00000511718.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000511718.5"
}
],
"gene_symbol": "FAM151B",
"gene_hgnc_id": 33716,
"dbsnp": "rs773726227",
"frequency_reference_population": 0.0000043408486,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410851,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6257913112640381,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.4828,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.391,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_205548.3",
"gene_symbol": "FAM151B",
"hgnc_id": 33716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.809T>A",
"hgvs_p": "p.Ile270Asn"
}
],
"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
}