← 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: 1-246735979-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=246735979&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 246735979,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016002.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "NM_016002.3",
"protein_id": "NP_057086.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 429,
"cds_start": 308,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": "ENST00000366510.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016002.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000366510.4",
"protein_id": "ENSP00000355467.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 429,
"cds_start": 308,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": "NM_016002.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366510.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878248.1",
"protein_id": "ENSP00000548307.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 446,
"cds_start": 308,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878248.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878244.1",
"protein_id": "ENSP00000548303.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 440,
"cds_start": 308,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878244.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878246.1",
"protein_id": "ENSP00000548305.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 422,
"cds_start": 308,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878246.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878245.1",
"protein_id": "ENSP00000548304.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 421,
"cds_start": 308,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878245.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878247.1",
"protein_id": "ENSP00000548306.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 420,
"cds_start": 308,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878247.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878238.1",
"protein_id": "ENSP00000548297.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 411,
"cds_start": 308,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878238.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878241.1",
"protein_id": "ENSP00000548300.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 404,
"cds_start": 308,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878241.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878242.1",
"protein_id": "ENSP00000548301.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 369,
"cds_start": 308,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878242.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln",
"transcript": "ENST00000878243.1",
"protein_id": "ENSP00000548302.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 360,
"cds_start": 308,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878243.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.304-4193G>A",
"hgvs_p": null,
"transcript": "ENST00000878239.1",
"protein_id": "ENSP00000548298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878239.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.303+8975G>A",
"hgvs_p": null,
"transcript": "ENST00000878240.1",
"protein_id": "ENSP00000548299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878240.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"hgvs_c": "c.303+8975G>A",
"hgvs_p": null,
"transcript": "ENST00000878249.1",
"protein_id": "ENSP00000548308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878249.1"
}
],
"gene_symbol": "SCCPDH",
"gene_hgnc_id": 24275,
"dbsnp": "rs768013420",
"frequency_reference_population": 0.0000404697,
"hom_count_reference_population": 3,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000419502,
"gnomad_genomes_af": 0.0000263099,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7376022338867188,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.451,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5356,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.481,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016002.3",
"gene_symbol": "SCCPDH",
"hgnc_id": 24275,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}