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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: 2-149571135-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=149571135&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 149571135,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015702.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "NM_015702.3",
"protein_id": "NP_056517.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": "ENST00000303319.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015702.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000303319.10",
"protein_id": "ENSP00000301920.5",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": "NM_015702.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303319.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"transcript": "ENST00000934249.1",
"protein_id": "ENSP00000604308.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 337,
"cds_start": 769,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934249.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000422782.2",
"protein_id": "ENSP00000408331.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 330,
"cds_start": 748,
"cds_end": null,
"cds_length": 993,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422782.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000428879.5",
"protein_id": "ENSP00000389060.1",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428879.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000893992.1",
"protein_id": "ENSP00000564051.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893992.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000893995.1",
"protein_id": "ENSP00000564054.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893995.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000893996.1",
"protein_id": "ENSP00000564055.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893996.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000893997.1",
"protein_id": "ENSP00000564056.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893997.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000949352.1",
"protein_id": "ENSP00000619411.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 296,
"cds_start": 646,
"cds_end": null,
"cds_length": 891,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949352.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.625C>G",
"hgvs_p": "p.Arg209Gly",
"transcript": "ENST00000934248.1",
"protein_id": "ENSP00000604307.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 289,
"cds_start": 625,
"cds_end": null,
"cds_length": 870,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934248.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Arg199Gly",
"transcript": "ENST00000934250.1",
"protein_id": "ENSP00000604309.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 279,
"cds_start": 595,
"cds_end": null,
"cds_length": 840,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934250.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.46C>G",
"hgvs_p": "p.Arg16Gly",
"transcript": "ENST00000893993.1",
"protein_id": "ENSP00000564052.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 96,
"cds_start": 46,
"cds_end": null,
"cds_length": 291,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893993.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MMADHC",
"gene_hgnc_id": 25221,
"hgvs_c": "c.610-967C>G",
"hgvs_p": null,
"transcript": "ENST00000893994.1",
"protein_id": "ENSP00000564053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893994.1"
}
],
"gene_symbol": "MMADHC",
"gene_hgnc_id": 25221,
"dbsnp": "rs141093638",
"frequency_reference_population": 0.0016227079,
"hom_count_reference_population": 10,
"allele_count_reference_population": 2616,
"gnomad_exomes_af": 0.0016084,
"gnomad_genomes_af": 0.00175985,
"gnomad_exomes_ac": 2348,
"gnomad_genomes_ac": 268,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012877136468887329,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.482,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1539,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.396,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "NM_015702.3",
"gene_symbol": "MMADHC",
"hgnc_id": 25221,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly"
}
],
"clinvar_disease": "Disorders of Intracellular Cobalamin Metabolism,MMADHC-related disorder,Methylmalonic aciduria and homocystinuria type cblD,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:4",
"phenotype_combined": "not specified|Methylmalonic aciduria and homocystinuria type cblD|not provided|Disorders of Intracellular Cobalamin Metabolism|MMADHC-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}