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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: 1-160041644-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160041644&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160041644,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000644903.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "NM_002241.5",
"protein_id": "NP_002232.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 379,
"cds_start": 889,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": "ENST00000644903.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "ENST00000644903.1",
"protein_id": "ENSP00000495557.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 379,
"cds_start": 889,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": "NM_002241.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "ENST00000638728.1",
"protein_id": "ENSP00000492619.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 379,
"cds_start": 889,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "ENST00000638868.1",
"protein_id": "ENSP00000491250.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 379,
"cds_start": 889,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "n.610C>T",
"hgvs_p": null,
"transcript": "ENST00000638840.1",
"protein_id": "ENSP00000492249.1",
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.669+190C>T",
"hgvs_p": null,
"transcript": "ENST00000509700.2",
"protein_id": "ENSP00000491416.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.669+190C>T",
"hgvs_p": null,
"transcript": "ENST00000640017.1",
"protein_id": "ENSP00000491337.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.487+402C>T",
"hgvs_p": null,
"transcript": "ENST00000639408.2",
"protein_id": "ENSP00000491635.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.487+402C>T",
"hgvs_p": null,
"transcript": "ENST00000637644.1",
"protein_id": "ENSP00000490282.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "c.123+190C>T",
"hgvs_p": null,
"transcript": "ENST00000640914.1",
"protein_id": "ENSP00000491175.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"hgvs_c": "n.95-2296C>T",
"hgvs_p": null,
"transcript": "ENST00000636689.1",
"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": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ10",
"gene_hgnc_id": 6256,
"dbsnp": "rs137853071",
"frequency_reference_population": 0.0000047885187,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478852,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.988739013671875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.943,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9532,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.92,
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000644903.1",
"gene_symbol": "KCNJ10",
"hgnc_id": 6256,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 4,EAST syndrome,Pendred syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "EAST syndrome|not provided|EAST syndrome;Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}