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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: 5-176347729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176347729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIAA1191",
"hgnc_id": 29209,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_020444.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "KIAA1191-AS1",
"hgnc_id": 41234,
"hgvs_c": "n.-212C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000508187.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.251,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07313472032546997,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_020444.5",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298569.9",
"protein_coding": true,
"protein_id": "NP_065177.2",
"strand": false,
"transcript": "NM_020444.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000298569.9",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020444.5",
"protein_coding": true,
"protein_id": "ENSP00000298569.4",
"strand": false,
"transcript": "ENST00000298569.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000510164.5",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421061.1",
"strand": false,
"transcript": "ENST00000510164.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 286,
"aa_ref": "M",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 861,
"cds_start": 732,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393725.6",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.732G>A",
"hgvs_p": "p.Met244Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377326.2",
"strand": false,
"transcript": "ENST00000393725.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393728.6",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "n.576G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000393728.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 306,
"aa_ref": "M",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 921,
"cds_start": 792,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881479.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Met264Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551538.1",
"strand": false,
"transcript": "ENST00000881479.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001079685.3",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073153.1",
"strand": false,
"transcript": "NM_001079685.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881476.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551535.1",
"strand": false,
"transcript": "ENST00000881476.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881478.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551537.1",
"strand": false,
"transcript": "ENST00000881478.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881480.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551539.1",
"strand": false,
"transcript": "ENST00000881480.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881483.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551542.1",
"strand": false,
"transcript": "ENST00000881483.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881484.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551543.1",
"strand": false,
"transcript": "ENST00000881484.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881485.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551544.1",
"strand": false,
"transcript": "ENST00000881485.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938951.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609010.1",
"strand": false,
"transcript": "ENST00000938951.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938952.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609011.1",
"strand": false,
"transcript": "ENST00000938952.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938954.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609013.1",
"strand": false,
"transcript": "ENST00000938954.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938955.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609014.1",
"strand": false,
"transcript": "ENST00000938955.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938956.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609015.1",
"strand": false,
"transcript": "ENST00000938956.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938957.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609016.1",
"strand": false,
"transcript": "ENST00000938957.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "M",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 918,
"cds_start": 789,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954740.1",
"gene_hgnc_id": 29209,
"gene_symbol": "KIAA1191",
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Met263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624799.1",
"strand": false,
"transcript": "ENST00000954740.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 286,
"aa_ref": "M",
"aa_start": 244,
"biotype": "protein_coding",
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"gnomad_exomes_homalt": 0,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.543,
"pos": 176347729,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.044,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020444.5"
}
]
}