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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: 1-39485632-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39485632&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39485632,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000564288.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.22506T>G",
"hgvs_p": "p.Phe7502Leu",
"transcript": "NM_001394062.1",
"protein_id": "NP_001380991.1",
"transcript_support_level": null,
"aa_start": 7502,
"aa_end": null,
"aa_length": 7555,
"cds_start": 22506,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 22834,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "ENST00000564288.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.22506T>G",
"hgvs_p": "p.Phe7502Leu",
"transcript": "ENST00000564288.6",
"protein_id": "ENSP00000455274.1",
"transcript_support_level": 5,
"aa_start": 7502,
"aa_end": null,
"aa_length": 7555,
"cds_start": 22506,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 22834,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "NM_001394062.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1334T>G",
"hgvs_p": null,
"transcript": "ENST00000497807.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 101,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.22617T>G",
"hgvs_p": "p.Phe7539Leu",
"transcript": "ENST00000567887.5",
"protein_id": "ENSP00000455823.1",
"transcript_support_level": 5,
"aa_start": 7539,
"aa_end": null,
"aa_length": 7592,
"cds_start": 22617,
"cds_end": null,
"cds_length": 22779,
"cdna_start": 22774,
"cdna_end": null,
"cdna_length": 24319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 96,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.21996T>G",
"hgvs_p": "p.Phe7332Leu",
"transcript": "ENST00000372915.8",
"protein_id": "ENSP00000362006.4",
"transcript_support_level": 5,
"aa_start": 7332,
"aa_end": null,
"aa_length": 7385,
"cds_start": 21996,
"cds_end": null,
"cds_length": 22158,
"cdna_start": 22083,
"cdna_end": null,
"cdna_length": 23431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.16131T>G",
"hgvs_p": "p.Phe5377Leu",
"transcript": "NM_012090.5",
"protein_id": "NP_036222.3",
"transcript_support_level": null,
"aa_start": 5377,
"aa_end": null,
"aa_length": 5430,
"cds_start": 16131,
"cds_end": null,
"cds_length": 16293,
"cdna_start": 16183,
"cdna_end": null,
"cdna_length": 17689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.16131T>G",
"hgvs_p": "p.Phe5377Leu",
"transcript": "ENST00000361689.7",
"protein_id": "ENSP00000354573.2",
"transcript_support_level": 5,
"aa_start": 5377,
"aa_end": null,
"aa_length": 5430,
"cds_start": 16131,
"cds_end": null,
"cds_length": 16293,
"cdna_start": 16310,
"cdna_end": null,
"cdna_length": 17665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.15978T>G",
"hgvs_p": "p.Phe5326Leu",
"transcript": "ENST00000671089.2",
"protein_id": "ENSP00000499399.1",
"transcript_support_level": null,
"aa_start": 5326,
"aa_end": null,
"aa_length": 5379,
"cds_start": 15978,
"cds_end": null,
"cds_length": 16140,
"cdna_start": 16078,
"cdna_end": null,
"cdna_length": 17433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.13140T>G",
"hgvs_p": "p.Phe4380Leu",
"transcript": "ENST00000372925.6",
"protein_id": "ENSP00000362016.2",
"transcript_support_level": 5,
"aa_start": 4380,
"aa_end": null,
"aa_length": 4433,
"cds_start": 13140,
"cds_end": null,
"cds_length": 13302,
"cdna_start": 13141,
"cdna_end": null,
"cdna_length": 14496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.10386T>G",
"hgvs_p": "p.Phe3462Leu",
"transcript": "NM_001397473.1",
"protein_id": "NP_001384402.1",
"transcript_support_level": null,
"aa_start": 3462,
"aa_end": null,
"aa_length": 3515,
"cds_start": 10386,
"cds_end": null,
"cds_length": 10548,
"cdna_start": 11579,
"cdna_end": null,
"cdna_length": 13085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.6669T>G",
"hgvs_p": "p.Phe2223Leu",
"transcript": "ENST00000683517.1",
"protein_id": "ENSP00000508231.1",
"transcript_support_level": null,
"aa_start": 2223,
"aa_end": null,
"aa_length": 2276,
"cds_start": 6669,
"cds_end": null,
"cds_length": 6831,
"cdna_start": 6669,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.1467T>G",
"hgvs_p": "p.Phe489Leu",
"transcript": "ENST00000360115.8",
"protein_id": "ENSP00000353231.4",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 542,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.1203T>G",
"hgvs_p": "p.Phe401Leu",
"transcript": "ENST00000446276.5",
"protein_id": "ENSP00000391512.1",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 454,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.942T>G",
"hgvs_p": "p.Phe314Leu",
"transcript": "ENST00000442046.5",
"protein_id": "ENSP00000407776.1",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 367,
"cds_start": 942,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.17786T>G",
"hgvs_p": null,
"transcript": "ENST00000289893.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1495T>G",
"hgvs_p": null,
"transcript": "ENST00000496360.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.6835T>G",
"hgvs_p": null,
"transcript": "ENST00000686657.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1696T>G",
"hgvs_p": null,
"transcript": "ENST00000686687.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1574T>G",
"hgvs_p": null,
"transcript": "ENST00000689726.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.4369T>G",
"hgvs_p": null,
"transcript": "ENST00000691623.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"dbsnp": "rs138819868",
"frequency_reference_population": 0.003735629,
"hom_count_reference_population": 17,
"allele_count_reference_population": 6030,
"gnomad_exomes_af": 0.00383138,
"gnomad_genomes_af": 0.00281662,
"gnomad_exomes_ac": 5601,
"gnomad_genomes_ac": 429,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006961315870285034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.062,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000564288.6",
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.22506T>G",
"hgvs_p": "p.Phe7502Leu"
}
],
"clinvar_disease": "Abnormal corpus callosum morphology,MACF1-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Abnormal corpus callosum morphology|not provided|MACF1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}