← 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: 9-133360384-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133360384&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133360384,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017503.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "NM_017503.5",
"protein_id": "NP_059973.4",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 256,
"cds_start": 637,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371964.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017503.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000371964.5",
"protein_id": "ENSP00000361032.4",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 256,
"cds_start": 637,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017503.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371964.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Gly236Ser",
"transcript": "ENST00000934438.1",
"protein_id": "ENSP00000604497.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 279,
"cds_start": 706,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934438.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "NM_001278928.2",
"protein_id": "NP_001265857.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 255,
"cds_start": 637,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278928.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000875735.1",
"protein_id": "ENSP00000545794.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 255,
"cds_start": 637,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875735.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000934434.1",
"protein_id": "ENSP00000604494.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 254,
"cds_start": 637,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934434.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000875737.1",
"protein_id": "ENSP00000545796.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 250,
"cds_start": 637,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875737.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"transcript": "ENST00000875738.1",
"protein_id": "ENSP00000545797.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 233,
"cds_start": 568,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875738.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Ser",
"transcript": "ENST00000875736.1",
"protein_id": "ENSP00000545795.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 196,
"cds_start": 457,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875736.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Ser",
"transcript": "ENST00000934436.1",
"protein_id": "ENSP00000604495.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 195,
"cds_start": 457,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934436.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Gly130Ser",
"transcript": "ENST00000934437.1",
"protein_id": "ENSP00000604496.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 173,
"cds_start": 388,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934437.1"
}
],
"gene_symbol": "SURF2",
"gene_hgnc_id": 11475,
"dbsnp": "rs12763",
"frequency_reference_population": 0.38283184,
"hom_count_reference_population": 121454,
"allele_count_reference_population": 617494,
"gnomad_exomes_af": 0.388053,
"gnomad_genomes_af": 0.332667,
"gnomad_exomes_ac": 566908,
"gnomad_genomes_ac": 50586,
"gnomad_exomes_homalt": 112300,
"gnomad_genomes_homalt": 9154,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0023717284202575684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0781,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.087,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_017503.5",
"gene_symbol": "SURF2",
"hgnc_id": 11475,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}