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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: 2-126693891-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=126693891&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 126693891,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002101.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"transcript": "NM_002101.5",
"protein_id": "NP_002092.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 128,
"cds_start": 134,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259254.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002101.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"transcript": "ENST00000259254.9",
"protein_id": "ENSP00000259254.4",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 128,
"cds_start": 134,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002101.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259254.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Pro26Leu",
"transcript": "ENST00000409836.3",
"protein_id": "ENSP00000386904.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 109,
"cds_start": 77,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409836.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000356887.12",
"protein_id": "ENSP00000349354.7",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 107,
"cds_start": 71,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356887.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000971946.1",
"protein_id": "ENSP00000642005.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 135,
"cds_start": 155,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971946.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Pro26Leu",
"transcript": "NM_016815.4",
"protein_id": "NP_058131.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 109,
"cds_start": 77,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016815.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_001256584.2",
"protein_id": "NP_001243513.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 107,
"cds_start": 71,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256584.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Pro63Leu",
"transcript": "XM_047444034.1",
"protein_id": "XP_047299990.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 146,
"cds_start": 188,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444034.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "GYPC",
"gene_hgnc_id": 4704,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "XM_047444035.1",
"protein_id": "XP_047299991.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 122,
"cds_start": 116,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444035.1"
}
],
"gene_symbol": "GYPC",
"gene_hgnc_id": 4704,
"dbsnp": "rs139780142",
"frequency_reference_population": 0.00004404281,
"hom_count_reference_population": 2,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000452092,
"gnomad_genomes_af": 0.0000328541,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01968476176261902,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.597,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002101.5",
"gene_symbol": "GYPC",
"hgnc_id": 4704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}