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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: 1-39453562-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39453562&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"hgvs_c": "c.20743-145A>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001394062.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 7555,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24340,
"cdna_start": null,
"cds_end": null,
"cds_length": 22668,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 101,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394062.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.20743-145A>C",
"hgvs_p": null,
"intron_rank": 87,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000564288.6",
"protein_coding": true,
"protein_id": "NP_001380991.1",
"strand": true,
"transcript": "NM_001394062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 7555,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 24340,
"cdna_start": null,
"cds_end": null,
"cds_length": 22668,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 101,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564288.6",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.20743-145A>C",
"hgvs_p": null,
"intron_rank": 87,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394062.1",
"protein_coding": true,
"protein_id": "ENSP00000455274.1",
"strand": true,
"transcript": "ENST00000564288.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 7592,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24319,
"cdna_start": null,
"cds_end": null,
"cds_length": 22779,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 101,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567887.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.20854-145A>C",
"hgvs_p": null,
"intron_rank": 87,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455823.1",
"strand": true,
"transcript": "ENST00000567887.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 7385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 23431,
"cdna_start": null,
"cds_end": null,
"cds_length": 22158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 96,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372915.8",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.20431-145A>C",
"hgvs_p": null,
"intron_rank": 85,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362006.4",
"strand": true,
"transcript": "ENST00000372915.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 5430,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17689,
"cdna_start": null,
"cds_end": null,
"cds_length": 16293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 93,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012090.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.14566-145A>C",
"hgvs_p": null,
"intron_rank": 82,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036222.3",
"strand": true,
"transcript": "NM_012090.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 5430,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17665,
"cdna_start": null,
"cds_end": null,
"cds_length": 16293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 94,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361689.7",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.14566-145A>C",
"hgvs_p": null,
"intron_rank": 83,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354573.2",
"strand": true,
"transcript": "ENST00000361689.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 5379,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17433,
"cdna_start": null,
"cds_end": null,
"cds_length": 16140,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 93,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671089.2",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.14413-145A>C",
"hgvs_p": null,
"intron_rank": 82,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499399.1",
"strand": true,
"transcript": "ENST00000671089.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14496,
"cdna_start": null,
"cds_end": null,
"cds_length": 13302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 71,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372925.6",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.11575-145A>C",
"hgvs_p": null,
"intron_rank": 60,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362016.2",
"strand": true,
"transcript": "ENST00000372925.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3515,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13085,
"cdna_start": null,
"cds_end": null,
"cds_length": 10548,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001397473.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.8821-145A>C",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001384402.1",
"strand": true,
"transcript": "NM_001397473.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2276,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7104,
"cdna_start": null,
"cds_end": null,
"cds_length": 6831,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683517.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.5104-145A>C",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508231.1",
"strand": true,
"transcript": "ENST00000683517.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 19141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000289893.8",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.16203-145A>C",
"hgvs_p": null,
"intron_rank": 52,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000289893.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8828,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686067.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.6416-145A>C",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000686067.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8635,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687997.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.6416-145A>C",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000687997.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691623.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.2804-145A>C",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000691623.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs687848",
"effect": "intron_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.635,
"pos": 39453562,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001394062.1"
}
]
}