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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: 20-35246882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35246882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35246882,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006690.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24",
"gene_hgnc_id": 7172,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"transcript": "NM_006690.4",
"protein_id": "NP_006681.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 645,
"cds_start": 289,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": "ENST00000246186.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24",
"gene_hgnc_id": 7172,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"transcript": "ENST00000246186.8",
"protein_id": "ENSP00000246186.6",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 645,
"cds_start": 289,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": "NM_006690.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24",
"gene_hgnc_id": 7172,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Trp",
"transcript": "XM_017027598.2",
"protein_id": "XP_016883087.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 614,
"cds_start": 196,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24",
"gene_hgnc_id": 7172,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"transcript": "XM_017027597.2",
"protein_id": "XP_016883086.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 591,
"cds_start": 289,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24",
"gene_hgnc_id": 7172,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"transcript": "XM_011528500.3",
"protein_id": "XP_011526802.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 556,
"cds_start": 289,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMP24-AS1-EDEM2",
"gene_hgnc_id": null,
"hgvs_c": "c.-462-10691G>A",
"hgvs_p": null,
"transcript": "NM_001355008.2",
"protein_id": "NP_001341937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMP24OS",
"gene_hgnc_id": 44421,
"hgvs_c": "n.222-10691G>A",
"hgvs_p": null,
"transcript": "ENST00000433764.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MMP24OS",
"gene_hgnc_id": 44421,
"hgvs_c": "n.238-21930G>A",
"hgvs_p": null,
"transcript": "ENST00000438751.5",
"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": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMP24OS",
"gene_hgnc_id": 44421,
"hgvs_c": "n.228-10691G>A",
"hgvs_p": null,
"transcript": "ENST00000454184.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MMP24OS",
"gene_hgnc_id": 44421,
"hgvs_c": "n.237-20885G>A",
"hgvs_p": null,
"transcript": "ENST00000456350.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMP24OS",
"gene_hgnc_id": 44421,
"hgvs_c": "n.255+25123G>A",
"hgvs_p": null,
"transcript": "ENST00000566203.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MMP24OS",
"gene_hgnc_id": 44421,
"hgvs_c": "n.197+25123G>A",
"hgvs_p": null,
"transcript": "ENST00000635104.1",
"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": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MMP24",
"gene_hgnc_id": 7172,
"dbsnp": "rs373597415",
"frequency_reference_population": 0.00003841659,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.0000389965,
"gnomad_genomes_af": 0.0000328476,
"gnomad_exomes_ac": 57,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6841654777526855,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.1446,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.902,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006690.4",
"gene_symbol": "MMP24",
"hgnc_id": 7172,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001355008.2",
"gene_symbol": "MMP24-AS1-EDEM2",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-462-10691G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000438751.5",
"gene_symbol": "MMP24OS",
"hgnc_id": 44421,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238-21930G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}