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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: 7-66638300-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66638300&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66638300,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000639828.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_153033.5",
"protein_id": "NP_694578.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 289,
"cds_start": 362,
"cds_end": null,
"cds_length": 870,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": "ENST00000639828.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000639828.2",
"protein_id": "ENSP00000492240.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 289,
"cds_start": 362,
"cds_end": null,
"cds_length": 870,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": "NM_153033.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000443322.1",
"protein_id": "ENSP00000411624.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 288,
"cds_start": 362,
"cds_end": null,
"cds_length": 867,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284461",
"gene_hgnc_id": null,
"hgvs_c": "n.192G>A",
"hgvs_p": null,
"transcript": "ENST00000503687.2",
"protein_id": "ENSP00000421074.1",
"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": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000640385.1",
"protein_id": "ENSP00000491193.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 304,
"cds_start": 362,
"cds_end": null,
"cds_length": 915,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_001167961.2",
"protein_id": "NP_001161433.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 288,
"cds_start": 362,
"cds_end": null,
"cds_length": 867,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000275532.8",
"protein_id": "ENSP00000275532.4",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 258,
"cds_start": 362,
"cds_end": null,
"cds_length": 777,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000640851.1",
"protein_id": "ENSP00000492577.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 238,
"cds_start": 362,
"cds_end": null,
"cds_length": 717,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77His",
"transcript": "ENST00000640234.1",
"protein_id": "ENSP00000491794.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 204,
"cds_start": 230,
"cds_end": null,
"cds_length": 615,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000639879.1",
"protein_id": "ENSP00000492161.1",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 186,
"cds_start": 362,
"cds_end": null,
"cds_length": 561,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000449064.6",
"protein_id": "ENSP00000388463.2",
"transcript_support_level": 4,
"aa_start": 113,
"aa_end": null,
"aa_length": 177,
"cds_start": 338,
"cds_end": null,
"cds_length": 536,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.165G>A",
"hgvs_p": "p.Ala55Ala",
"transcript": "ENST00000638540.1",
"protein_id": "ENSP00000492064.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 136,
"cds_start": 165,
"cds_end": null,
"cds_length": 411,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 4471,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "ENST00000638524.1",
"protein_id": "ENSP00000491791.1",
"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": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"dbsnp": "rs199624315",
"frequency_reference_population": 0.000026018759,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000259937,
"gnomad_genomes_af": 0.0000262595,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18346133828163147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.38,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.164,
"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": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639828.2",
"gene_symbol": "KCTD7",
"hgnc_id": 21957,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000503687.2",
"gene_symbol": "ENSG00000284461",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.192G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Progressive myoclonic epilepsy type 3,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Progressive myoclonic epilepsy type 3|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}