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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: 2-27055171-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27055171&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27055171,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000360131.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "NM_021831.6",
"protein_id": "NP_068603.4",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 886,
"cds_start": 826,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": "ENST00000360131.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "ENST00000360131.5",
"protein_id": "ENSP00000353249.4",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 886,
"cds_start": 826,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": "NM_021831.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "ENST00000323064.12",
"protein_id": "ENSP00000323681.8",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 717,
"cds_start": 826,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2382,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "n.826C>T",
"hgvs_p": null,
"transcript": "ENST00000487078.5",
"protein_id": "ENSP00000433830.1",
"transcript_support_level": 1,
"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": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "NM_001035507.3",
"protein_id": "NP_001030584.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 717,
"cds_start": 826,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_011533011.4",
"protein_id": "XP_011531313.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 886,
"cds_start": 826,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_011533012.3",
"protein_id": "XP_011531314.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 886,
"cds_start": 826,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_011533013.3",
"protein_id": "XP_011531315.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 886,
"cds_start": 826,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_047445374.1",
"protein_id": "XP_047301330.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 816,
"cds_start": 826,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_005264477.4",
"protein_id": "XP_005264534.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 805,
"cds_start": 826,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_047445375.1",
"protein_id": "XP_047301331.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 805,
"cds_start": 826,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_047445376.1",
"protein_id": "XP_047301332.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 717,
"cds_start": 826,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"transcript": "XM_047445377.1",
"protein_id": "XP_047301333.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 717,
"cds_start": 826,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2488,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "n.998C>T",
"hgvs_p": null,
"transcript": "ENST00000477136.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2165,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "n.985C>T",
"hgvs_p": null,
"transcript": "ENST00000489683.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1850,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "n.998C>T",
"hgvs_p": null,
"transcript": "NR_104246.2",
"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": 3235,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"hgvs_c": "n.1004C>T",
"hgvs_p": null,
"transcript": "NR_138023.2",
"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": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGBL5",
"gene_hgnc_id": 26147,
"dbsnp": "rs879253769",
"frequency_reference_population": 0.000004956378,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478835,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8526550531387329,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.595,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360131.5",
"gene_symbol": "AGBL5",
"hgnc_id": 26147,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp"
}
],
"clinvar_disease": "Retinitis pigmentosa 75,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:2",
"phenotype_combined": "Retinitis pigmentosa 75|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}