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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: 16-67178018-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67178018&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67178018,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040715.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001040715.2",
"protein_id": "NP_001035805.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": "ENST00000563902.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040715.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "ENST00000563902.2",
"protein_id": "ENSP00000456838.1",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": "NM_001040715.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563902.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.*6C>G",
"hgvs_p": null,
"transcript": "ENST00000561621.5",
"protein_id": "ENSP00000457099.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": null,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561621.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001369680.1",
"protein_id": "NP_001356609.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369680.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001369681.1",
"protein_id": "NP_001356610.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369681.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001369682.1",
"protein_id": "NP_001356611.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369682.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001369684.1",
"protein_id": "NP_001356613.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369684.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001369685.1",
"protein_id": "NP_001356614.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369685.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "NM_001369686.1",
"protein_id": "NP_001356615.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369686.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "ENST00000290881.11",
"protein_id": "ENSP00000290881.7",
"transcript_support_level": 5,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290881.11"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "ENST00000886314.1",
"protein_id": "ENSP00000556373.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886314.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "ENST00000886315.1",
"protein_id": "ENSP00000556374.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886315.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "ENST00000944219.1",
"protein_id": "ENSP00000614278.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944219.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val",
"transcript": "ENST00000944220.1",
"protein_id": "ENSP00000614279.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 471,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.*6C>G",
"hgvs_p": null,
"transcript": "NM_001369687.1",
"protein_id": "NP_001356616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": null,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "c.604+181C>G",
"hgvs_p": null,
"transcript": "ENST00000568563.5",
"protein_id": "ENSP00000459322.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "n.1444C>G",
"hgvs_p": null,
"transcript": "ENST00000561679.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561679.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "n.464C>G",
"hgvs_p": null,
"transcript": "ENST00000563918.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 798,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563918.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"hgvs_c": "n.631+181C>G",
"hgvs_p": null,
"transcript": "ENST00000563831.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 836,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563831.2"
}
],
"gene_symbol": "MATCAP1",
"gene_hgnc_id": 34408,
"dbsnp": "rs770872373",
"frequency_reference_population": 6.8414613e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84146e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7816638946533203,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5465,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.702,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040715.2",
"gene_symbol": "MATCAP1",
"hgnc_id": 34408,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1243C>G",
"hgvs_p": "p.Leu415Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}