← Back to variant description
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: 7-66633322-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66633322&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66633322,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000639828.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "NM_153033.5",
"protein_id": "NP_694578.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 289,
"cds_start": 192,
"cds_end": null,
"cds_length": 870,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": "ENST00000639828.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000639828.2",
"protein_id": "ENSP00000492240.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 289,
"cds_start": 192,
"cds_end": null,
"cds_length": 870,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": "NM_153033.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000443322.1",
"protein_id": "ENSP00000411624.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 288,
"cds_start": 192,
"cds_end": null,
"cds_length": 867,
"cdna_start": 314,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284461",
"gene_hgnc_id": null,
"hgvs_c": "n.144+4114A>G",
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000640385.1",
"protein_id": "ENSP00000491193.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 304,
"cds_start": 192,
"cds_end": null,
"cds_length": 915,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "NM_001167961.2",
"protein_id": "NP_001161433.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 288,
"cds_start": 192,
"cds_end": null,
"cds_length": 867,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000275532.8",
"protein_id": "ENSP00000275532.4",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 258,
"cds_start": 192,
"cds_end": null,
"cds_length": 777,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000640851.1",
"protein_id": "ENSP00000492577.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 238,
"cds_start": 192,
"cds_end": null,
"cds_length": 717,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.60A>G",
"hgvs_p": "p.Thr20Thr",
"transcript": "ENST00000640234.1",
"protein_id": "ENSP00000491794.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 204,
"cds_start": 60,
"cds_end": null,
"cds_length": 615,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"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.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000639879.1",
"protein_id": "ENSP00000492161.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 186,
"cds_start": 192,
"cds_end": null,
"cds_length": 561,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.168A>G",
"hgvs_p": "p.Thr56Thr",
"transcript": "ENST00000449064.6",
"protein_id": "ENSP00000388463.2",
"transcript_support_level": 4,
"aa_start": 56,
"aa_end": null,
"aa_length": 177,
"cds_start": 168,
"cds_end": null,
"cds_length": 536,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "c.117+4114A>G",
"hgvs_p": null,
"transcript": "ENST00000638540.1",
"protein_id": "ENSP00000492064.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCTD7",
"gene_hgnc_id": 21957,
"hgvs_c": "n.138+4114A>G",
"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": "rs142526573",
"frequency_reference_population": 0.000030363306,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000171035,
"gnomad_genomes_af": 0.000157787,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.056,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000639828.2",
"gene_symbol": "KCTD7",
"hgnc_id": 21957,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000503687.2",
"gene_symbol": "ENSG00000284461",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144+4114A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Progressive myoclonic epilepsy type 3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|Progressive myoclonic epilepsy type 3|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}