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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: 7-103492033-CAAACAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103492033&ref=CAAACAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103492033,
"ref": "CAAACAT",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_005045.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "c.9370-13_9370-8delATGTTT",
"hgvs_p": null,
"transcript": "NM_005045.4",
"protein_id": "NP_005036.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3460,
"cds_start": null,
"cds_end": null,
"cds_length": 10383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428762.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005045.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "c.9370-13_9370-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000428762.6",
"protein_id": "ENSP00000392423.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3460,
"cds_start": null,
"cds_end": null,
"cds_length": 10383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005045.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428762.6"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A5-AS1",
"gene_hgnc_id": 55680,
"hgvs_c": "n.1366-12370_1366-12365delAAACAT",
"hgvs_p": null,
"transcript": "ENST00000422488.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000422488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "c.9370-13_9370-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000424685.3",
"protein_id": "ENSP00000388446.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3469,
"cds_start": null,
"cds_end": null,
"cds_length": 10410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424685.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "c.9370-13_9370-8delATGTTT",
"hgvs_p": null,
"transcript": "NM_173054.3",
"protein_id": "NP_774959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3458,
"cds_start": null,
"cds_end": null,
"cds_length": 10377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173054.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "c.9370-13_9370-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000343529.9",
"protein_id": "ENSP00000345694.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3458,
"cds_start": null,
"cds_end": null,
"cds_length": 10377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343529.9"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A5-AS1",
"gene_hgnc_id": 55680,
"hgvs_c": "n.308-20735_308-20730delAAACAT",
"hgvs_p": null,
"transcript": "ENST00000660729.1",
"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": "ENST00000660729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "n.1127-13_1127-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000679371.1",
"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": "retained_intron",
"feature": "ENST00000679371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "n.9254-13_9254-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000679867.1",
"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": "retained_intron",
"feature": "ENST00000679867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "n.2922-13_2922-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000680248.1",
"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": "retained_intron",
"feature": "ENST00000680248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "n.9370-13_9370-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000681034.1",
"protein_id": "ENSP00000506075.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "n.2619-13_2619-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000681364.1",
"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": "retained_intron",
"feature": "ENST00000681364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"hgvs_c": "n.3594-13_3594-8delATGTTT",
"hgvs_p": null,
"transcript": "ENST00000681921.1",
"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": "retained_intron",
"feature": "ENST00000681921.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A5-AS1",
"gene_hgnc_id": 55680,
"hgvs_c": "n.293-26320_293-26315delAAACAT",
"hgvs_p": null,
"transcript": "ENST00000841470.1",
"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": "ENST00000841470.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A5-AS1",
"gene_hgnc_id": 55680,
"hgvs_c": "n.1366-12365_1366-12360delTAAACA",
"hgvs_p": null,
"transcript": "NR_110141.1",
"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_110141.1"
}
],
"gene_symbol": "RELN",
"gene_hgnc_id": 9957,
"dbsnp": "rs141397961",
"frequency_reference_population": 0.0029060645,
"hom_count_reference_population": 113,
"allele_count_reference_population": 4667,
"gnomad_exomes_af": 0.00163639,
"gnomad_genomes_af": 0.015039,
"gnomad_exomes_ac": 2379,
"gnomad_genomes_ac": 2288,
"gnomad_exomes_homalt": 57,
"gnomad_genomes_homalt": 56,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.075,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005045.4",
"gene_symbol": "RELN",
"hgnc_id": 9957,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.9370-13_9370-8delATGTTT",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000422488.1",
"gene_symbol": "SLC26A5-AS1",
"hgnc_id": 55680,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1366-12370_1366-12365delAAACAT",
"hgvs_p": null
}
],
"clinvar_disease": "Familial temporal lobe epilepsy 7,Norman-Roberts syndrome,RELN-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Norman-Roberts syndrome;Familial temporal lobe epilepsy 7|not provided|RELN-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}