← Back to variant description
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: 19-3546266-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3546266&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3546266,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_174983.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg",
"transcript": "NM_174983.5",
"protein_id": "NP_778148.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355415.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174983.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg",
"transcript": "ENST00000355415.7",
"protein_id": "ENSP00000347583.1",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174983.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355415.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1201G>C",
"hgvs_p": "p.Gly401Arg",
"transcript": "ENST00000951867.1",
"protein_id": "ENSP00000621926.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 486,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951867.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Gly386Arg",
"transcript": "NM_001287529.2",
"protein_id": "NP_001274458.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 471,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287529.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000589063.5",
"protein_id": "ENSP00000467635.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 180,
"cds_start": 220,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589063.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.91G>C",
"hgvs_p": "p.Gly31Arg",
"transcript": "ENST00000398558.8",
"protein_id": "ENSP00000381566.4",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 174,
"cds_start": 91,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398558.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Gly85Arg",
"transcript": "ENST00000615073.4",
"protein_id": "ENSP00000478456.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 163,
"cds_start": 253,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615073.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg",
"transcript": "XM_047438170.1",
"protein_id": "XP_047294126.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 538,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438170.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg",
"transcript": "XM_011527684.3",
"protein_id": "XP_011525986.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 473,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527684.3"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.931-98G>C",
"hgvs_p": null,
"transcript": "ENST00000913269.1",
"protein_id": "ENSP00000583328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913269.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.577-98G>C",
"hgvs_p": null,
"transcript": "ENST00000589995.1",
"protein_id": "ENSP00000465302.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589995.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1024-98G>C",
"hgvs_p": null,
"transcript": "XM_005259490.5",
"protein_id": "XP_005259547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259490.5"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1024-98G>C",
"hgvs_p": null,
"transcript": "XM_017026288.2",
"protein_id": "XP_016881777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026288.2"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "c.1024-98G>C",
"hgvs_p": null,
"transcript": "XM_047438171.1",
"protein_id": "XP_047294127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"hgvs_c": "n.1156G>C",
"hgvs_p": null,
"transcript": "ENST00000588918.5",
"protein_id": "ENSP00000467207.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588918.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFSD12-AS1",
"gene_hgnc_id": 56727,
"hgvs_c": "n.456+1612C>G",
"hgvs_p": null,
"transcript": "ENST00000589360.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589360.1"
}
],
"gene_symbol": "MFSD12",
"gene_hgnc_id": 28299,
"dbsnp": "rs34878396",
"frequency_reference_population": 0.0000013714749,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137147,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9182361364364624,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.755,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7301,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.273,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_174983.5",
"gene_symbol": "MFSD12",
"hgnc_id": 28299,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589360.1",
"gene_symbol": "MFSD12-AS1",
"hgnc_id": 56727,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.456+1612C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}