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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: 7-142087527-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=142087527&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 142087527,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000475668.6",
"consequences": [
{
"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": 71,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "NM_001365693.1",
"protein_id": "NP_001352622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9172,
"mane_select": "ENST00000475668.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "ENST00000475668.6",
"protein_id": "ENSP00000417515.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9172,
"mane_select": "NM_001365693.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 48,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.4619-7093T>C",
"hgvs_p": null,
"transcript": "ENST00000549489.6",
"protein_id": "ENSP00000447378.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1857,
"cds_start": -4,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 48,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.4619-7093T>C",
"hgvs_p": null,
"transcript": "NM_004668.3",
"protein_id": "NP_004659.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1857,
"cds_start": -4,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 48,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.4771-8038T>C",
"hgvs_p": null,
"transcript": "ENST00000620571.1",
"protein_id": "ENSP00000482292.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1857,
"cds_start": -4,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 71,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_011516670.3",
"protein_id": "XP_011514972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 72,
"intron_rank": 58,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_011516671.3",
"protein_id": "XP_011514973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 72,
"intron_rank": 58,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_011516672.3",
"protein_id": "XP_011514974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 71,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_011516673.3",
"protein_id": "XP_011514975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 72,
"intron_rank": 58,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_017012772.2",
"protein_id": "XP_016868261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 73,
"intron_rank": 59,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_047421011.1",
"protein_id": "XP_047276967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 72,
"intron_rank": 58,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_047421012.1",
"protein_id": "XP_047276968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2753,
"cds_start": -4,
"cds_end": null,
"cds_length": 8262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 66,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null,
"transcript": "XM_047421013.1",
"protein_id": "XP_047276969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2591,
"cds_start": -4,
"cds_end": null,
"cds_length": 7776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 48,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.4122+810T>C",
"hgvs_p": null,
"transcript": "XM_024446990.2",
"protein_id": "XP_024302758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1857,
"cds_start": -4,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 44,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"hgvs_c": "c.3291+810T>C",
"hgvs_p": null,
"transcript": "XM_047421014.1",
"protein_id": "XP_047276970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1580,
"cds_start": -4,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGAM",
"gene_hgnc_id": 7043,
"dbsnp": "rs10464448",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.896,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000475668.6",
"gene_symbol": "MGAM",
"hgnc_id": 7043,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.6810+810T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}