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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: 1-39485630-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39485630&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"hgvs_c": "c.22504T>C",
"hgvs_p": "p.Phe7502Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001394062.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9671,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2423170506954193,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 7555,
"aa_ref": "F",
"aa_start": 7502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24340,
"cdna_start": 22832,
"cds_end": null,
"cds_length": 22668,
"cds_start": 22504,
"consequences": [
"missense_variant"
],
"exon_count": 101,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "NM_001394062.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.22504T>C",
"hgvs_p": "p.Phe7502Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 7555,
"aa_ref": "F",
"aa_start": 7502,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 24340,
"cdna_start": 22832,
"cds_end": null,
"cds_length": 22668,
"cds_start": 22504,
"consequences": [
"missense_variant"
],
"exon_count": 101,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "ENST00000564288.6",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.22504T>C",
"hgvs_p": "p.Phe7502Leu",
"intron_rank": null,
"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": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000497807.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.1332T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497807.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 7592,
"aa_ref": "F",
"aa_start": 7539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 24319,
"cdna_start": 22772,
"cds_end": null,
"cds_length": 22779,
"cds_start": 22615,
"consequences": [
"missense_variant"
],
"exon_count": 101,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "ENST00000567887.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.22615T>C",
"hgvs_p": "p.Phe7539Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 7385,
"aa_ref": "F",
"aa_start": 7332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 23431,
"cdna_start": 22081,
"cds_end": null,
"cds_length": 22158,
"cds_start": 21994,
"consequences": [
"missense_variant"
],
"exon_count": 96,
"exon_rank": 96,
"exon_rank_end": null,
"feature": "ENST00000372915.8",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.21994T>C",
"hgvs_p": "p.Phe7332Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 5430,
"aa_ref": "F",
"aa_start": 5377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17689,
"cdna_start": 16181,
"cds_end": null,
"cds_length": 16293,
"cds_start": 16129,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "NM_012090.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.16129T>C",
"hgvs_p": "p.Phe5377Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 5430,
"aa_ref": "F",
"aa_start": 5377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17665,
"cdna_start": 16308,
"cds_end": null,
"cds_length": 16293,
"cds_start": 16129,
"consequences": [
"missense_variant"
],
"exon_count": 94,
"exon_rank": 94,
"exon_rank_end": null,
"feature": "ENST00000361689.7",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.16129T>C",
"hgvs_p": "p.Phe5377Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 5379,
"aa_ref": "F",
"aa_start": 5326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17433,
"cdna_start": 16076,
"cds_end": null,
"cds_length": 16140,
"cds_start": 15976,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": 93,
"exon_rank_end": null,
"feature": "ENST00000671089.2",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.15976T>C",
"hgvs_p": "p.Phe5326Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 4433,
"aa_ref": "F",
"aa_start": 4380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14496,
"cdna_start": 13139,
"cds_end": null,
"cds_length": 13302,
"cds_start": 13138,
"consequences": [
"missense_variant"
],
"exon_count": 71,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000372925.6",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.13138T>C",
"hgvs_p": "p.Phe4380Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 3515,
"aa_ref": "F",
"aa_start": 3462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13085,
"cdna_start": 11577,
"cds_end": null,
"cds_length": 10548,
"cds_start": 10384,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001397473.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.10384T>C",
"hgvs_p": "p.Phe3462Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 2276,
"aa_ref": "F",
"aa_start": 2223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7104,
"cdna_start": 6667,
"cds_end": null,
"cds_length": 6831,
"cds_start": 6667,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000683517.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.6667T>C",
"hgvs_p": "p.Phe2223Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "F",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000360115.8",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.1465T>C",
"hgvs_p": "p.Phe489Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353231.4",
"strand": true,
"transcript": "ENST00000360115.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000446276.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.1201T>C",
"hgvs_p": "p.Phe401Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391512.1",
"strand": true,
"transcript": "ENST00000446276.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 367,
"aa_ref": "F",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1104,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000442046.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "c.940T>C",
"hgvs_p": "p.Phe314Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407776.1",
"strand": true,
"transcript": "ENST00000442046.5",
"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": 19141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 64,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "ENST00000289893.8",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.17784T>C",
"hgvs_p": null,
"intron_rank": null,
"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": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000496360.5",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.1493T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496360.5",
"transcript_support_level": 2
},
{
"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": 8149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000686657.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.6833T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000686657.1",
"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": 3033,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000686687.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.1694T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000686687.1",
"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": 2916,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000689726.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.1572T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000689726.1",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000691623.1",
"gene_hgnc_id": 13664,
"gene_symbol": "MACF1",
"hgvs_c": "n.4367T>C",
"hgvs_p": null,
"intron_rank": null,
"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": null,
"effect": "missense_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": "Uncertain_significance",
"phylop100way_score": 3.849,
"pos": 39485630,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.25,
"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"
}
]
}