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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: 5-94386289-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=94386289&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 94386289,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001385712.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3572C>T",
"hgvs_p": "p.Pro1191Leu",
"transcript": "NM_001145678.3",
"protein_id": "NP_001139150.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682413.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145678.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3572C>T",
"hgvs_p": "p.Pro1191Leu",
"transcript": "ENST00000682413.1",
"protein_id": "ENSP00000506760.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145678.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682413.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "NM_001385712.1",
"protein_id": "NP_001372641.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385712.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "NM_001388325.1",
"protein_id": "NP_001375254.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388325.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "ENST00000703867.1",
"protein_id": "ENSP00000515512.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703867.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3572C>T",
"hgvs_p": "p.Pro1191Leu",
"transcript": "ENST00000513200.7",
"protein_id": "ENSP00000424618.2",
"transcript_support_level": 5,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513200.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "NM_001385713.1",
"protein_id": "NP_001372642.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385713.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_011543324.3",
"protein_id": "XP_011541626.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3587,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543324.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_011543325.4",
"protein_id": "XP_011541627.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3587,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543325.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_011543327.3",
"protein_id": "XP_011541629.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3587,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543327.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_011543328.4",
"protein_id": "XP_011541630.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3587,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543328.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_011543329.3",
"protein_id": "XP_011541631.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3587,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543329.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_011543330.3",
"protein_id": "XP_011541632.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543330.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_047417110.1",
"protein_id": "XP_047273066.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417110.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_017009373.2",
"protein_id": "XP_016864862.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1252,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009373.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu",
"transcript": "XM_017009374.2",
"protein_id": "XP_016864863.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3587,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009374.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.3251C>T",
"hgvs_p": "p.Pro1084Leu",
"transcript": "XM_011543335.3",
"protein_id": "XP_011541637.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543335.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "c.2423C>T",
"hgvs_p": "p.Pro808Leu",
"transcript": "XM_047417111.1",
"protein_id": "XP_047273067.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 953,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "n.3844C>T",
"hgvs_p": null,
"transcript": "NR_169751.1",
"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_169751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"hgvs_c": "n.3844C>T",
"hgvs_p": null,
"transcript": "XR_948246.3",
"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": "XR_948246.3"
}
],
"gene_symbol": "KIAA0825",
"gene_hgnc_id": 28532,
"dbsnp": "rs776944748",
"frequency_reference_population": 0.00001643827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000164383,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7338107824325562,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.324,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4111,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.955,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001385712.1",
"gene_symbol": "KIAA0825",
"hgnc_id": 28532,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Pro1196Leu"
}
],
"clinvar_disease": " postaxial, type a10,Polydactyly",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Polydactyly, postaxial, type a10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}