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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: 17-58506844-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58506844&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58506844,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000682306.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.932T>G",
"hgvs_p": "p.Val311Gly",
"transcript": "NM_001378067.1",
"protein_id": "NP_001364996.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1209,
"cds_start": 932,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": "ENST00000682306.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.932T>G",
"hgvs_p": "p.Val311Gly",
"transcript": "ENST00000682306.1",
"protein_id": "ENSP00000507664.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1209,
"cds_start": 932,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": "NM_001378067.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"transcript": "ENST00000323456.9",
"protein_id": "ENSP00000325285.5",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 1195,
"cds_start": 890,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.902T>G",
"hgvs_p": "p.Val301Gly",
"transcript": "NM_001378066.1",
"protein_id": "NP_001364995.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1199,
"cds_start": 902,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"transcript": "NM_004687.5",
"protein_id": "NP_004678.3",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 1195,
"cds_start": 890,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"transcript": "ENST00000579925.5",
"protein_id": "ENSP00000464067.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 1138,
"cds_start": 890,
"cds_end": null,
"cds_length": 3417,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.902T>G",
"hgvs_p": "p.Val301Gly",
"transcript": "XM_011525460.4",
"protein_id": "XP_011523762.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1199,
"cds_start": 902,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"transcript": "XM_005257786.6",
"protein_id": "XP_005257843.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 1195,
"cds_start": 890,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"transcript": "XM_006722168.5",
"protein_id": "XP_006722231.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 1195,
"cds_start": 890,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 6706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"transcript": "XM_047437019.1",
"protein_id": "XP_047292975.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 1195,
"cds_start": 890,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTMR4",
"gene_hgnc_id": 7452,
"dbsnp": "rs2302189",
"frequency_reference_population": 0.3843408,
"hom_count_reference_population": 122014,
"allele_count_reference_population": 619522,
"gnomad_exomes_af": 0.386872,
"gnomad_genomes_af": 0.360008,
"gnomad_exomes_ac": 564844,
"gnomad_genomes_ac": 54678,
"gnomad_exomes_homalt": 111749,
"gnomad_genomes_homalt": 10265,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0005507469177246094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.55,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.185,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000682306.1",
"gene_symbol": "MTMR4",
"hgnc_id": 7452,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.932T>G",
"hgvs_p": "p.Val311Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}