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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: 9-136853432-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136853432&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136853432,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "NM_206920.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*",
"transcript": "NM_206920.3",
"protein_id": "NP_996803.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1137,
"cds_start": 302,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317446.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206920.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*",
"transcript": "ENST00000317446.7",
"protein_id": "ENSP00000319388.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 1137,
"cds_start": 302,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206920.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317446.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "n.546C>G",
"hgvs_p": null,
"transcript": "ENST00000485732.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485732.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ser102*",
"transcript": "ENST00000905523.1",
"protein_id": "ENSP00000575582.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1217,
"cds_start": 305,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905523.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*",
"transcript": "ENST00000445819.5",
"protein_id": "ENSP00000411339.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 1216,
"cds_start": 302,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445819.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*",
"transcript": "ENST00000905522.1",
"protein_id": "ENSP00000575581.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1216,
"cds_start": 302,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905522.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ser102*",
"transcript": "ENST00000905525.1",
"protein_id": "ENSP00000575584.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1212,
"cds_start": 305,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905525.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*",
"transcript": "ENST00000905527.1",
"protein_id": "ENSP00000575586.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1211,
"cds_start": 302,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905527.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*",
"transcript": "ENST00000905528.1",
"protein_id": "ENSP00000575587.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1202,
"cds_start": 302,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905528.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ser102*",
"transcript": "ENST00000905529.1",
"protein_id": "ENSP00000575588.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1159,
"cds_start": 305,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905529.1"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.47-113C>G",
"hgvs_p": null,
"transcript": "ENST00000905526.1",
"protein_id": "ENSP00000575585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": null,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905526.1"
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.47-345C>G",
"hgvs_p": null,
"transcript": "ENST00000914727.1",
"protein_id": "ENSP00000584786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1080,
"cds_start": null,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914727.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"hgvs_c": "c.47-113C>G",
"hgvs_p": null,
"transcript": "ENST00000905524.1",
"protein_id": "ENSP00000575583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": null,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905524.1"
}
],
"gene_symbol": "MAMDC4",
"gene_hgnc_id": 24083,
"dbsnp": "rs761467290",
"frequency_reference_population": 0.0000065677996,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065678,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206920.3",
"gene_symbol": "MAMDC4",
"hgnc_id": 24083,
"effects": [
"stop_gained"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Ser101*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}