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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: 12-131840694-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=131840694&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 131840694,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000360564.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "NM_016155.7",
"protein_id": "NP_057239.4",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 603,
"cds_start": 544,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": "ENST00000360564.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "ENST00000360564.5",
"protein_id": "ENSP00000353767.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 603,
"cds_start": 544,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": "NM_016155.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.292G>T",
"hgvs_p": "p.Ala98Ser",
"transcript": "ENST00000535291.5",
"protein_id": "ENSP00000441106.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 519,
"cds_start": 292,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.292G>T",
"hgvs_p": "p.Ala98Ser",
"transcript": "NM_001411000.1",
"protein_id": "NP_001397929.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 519,
"cds_start": 292,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.292G>T",
"hgvs_p": "p.Ala98Ser",
"transcript": "XM_011538355.4",
"protein_id": "XP_011536657.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 519,
"cds_start": 292,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.292G>T",
"hgvs_p": "p.Ala98Ser",
"transcript": "XM_011538356.4",
"protein_id": "XP_011536658.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 519,
"cds_start": 292,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "XM_017019307.2",
"protein_id": "XP_016874796.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 434,
"cds_start": 544,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser",
"transcript": "XM_047428861.1",
"protein_id": "XP_047284817.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 323,
"cds_start": 544,
"cds_end": null,
"cds_length": 972,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1152,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.670G>T",
"hgvs_p": null,
"transcript": "ENST00000534865.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1510,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.544G>T",
"hgvs_p": null,
"transcript": "ENST00000535004.2",
"protein_id": "ENSP00000445620.2",
"transcript_support_level": 3,
"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": 1870,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.*231G>T",
"hgvs_p": null,
"transcript": "ENST00000545671.6",
"protein_id": "ENSP00000444603.2",
"transcript_support_level": 3,
"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": 775,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.544G>T",
"hgvs_p": null,
"transcript": "ENST00000545790.6",
"protein_id": "ENSP00000441710.2",
"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": 1910,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.646G>T",
"hgvs_p": null,
"transcript": "NR_182296.1",
"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": 2593,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.646G>T",
"hgvs_p": null,
"transcript": "NR_182297.1",
"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": 2274,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.646G>T",
"hgvs_p": null,
"transcript": "XR_944551.3",
"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": 1648,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.646G>T",
"hgvs_p": null,
"transcript": "XR_944552.3",
"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": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "n.*231G>T",
"hgvs_p": null,
"transcript": "ENST00000545671.6",
"protein_id": "ENSP00000444603.2",
"transcript_support_level": 3,
"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": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"hgvs_c": "c.-229G>T",
"hgvs_p": null,
"transcript": "XM_047428860.1",
"protein_id": "XP_047284816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MMP17",
"gene_hgnc_id": 7163,
"dbsnp": "rs6598163",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10728329420089722,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.539,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360564.5",
"gene_symbol": "MMP17",
"hgnc_id": 7163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Ala182Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}