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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: 2-38781846-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38781846&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GEMIN6",
"hgnc_id": 20044,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_024775.10",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 29,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1474,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33283716440200806,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 549,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024775.10",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281950.8",
"protein_coding": true,
"protein_id": "NP_079051.9",
"strand": true,
"transcript": "NM_024775.10",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 549,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000281950.8",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024775.10",
"protein_coding": true,
"protein_id": "ENSP00000281950.2",
"strand": true,
"transcript": "ENST00000281950.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 69,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": null,
"cds_end": null,
"cds_length": 210,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409011.5",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.*316C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387191.1",
"strand": true,
"transcript": "ENST00000409011.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": 577,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911088.1",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581147.1",
"strand": true,
"transcript": "ENST00000911088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 977,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911089.1",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581148.1",
"strand": true,
"transcript": "ENST00000911089.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 586,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937587.1",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607646.1",
"strand": true,
"transcript": "ENST00000937587.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 520,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937588.1",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607647.1",
"strand": true,
"transcript": "ENST00000937588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 504,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954658.1",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ser153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624717.1",
"strand": true,
"transcript": "ENST00000954658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": null,
"cds_end": null,
"cds_length": 336,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409566.1",
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"hgvs_c": "c.*306C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386613.1",
"strand": true,
"transcript": "ENST00000409566.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs185661000",
"effect": "missense_variant",
"frequency_reference_population": 0.000017971322,
"gene_hgnc_id": 20044,
"gene_symbol": "GEMIN6",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000177902,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197101,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.528,
"pos": 38781846,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.308,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024775.10"
}
]
}