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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: 17-12763359-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=12763359&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 12763359,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001146312.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2678delA",
"hgvs_p": "p.Lys893fs",
"transcript": "NM_001146312.3",
"protein_id": "NP_001139784.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 986,
"cds_start": 2678,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425538.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146312.3"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2678delA",
"hgvs_p": "p.Lys893fs",
"transcript": "ENST00000425538.6",
"protein_id": "ENSP00000401678.1",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 986,
"cds_start": 2678,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146312.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425538.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2534delA",
"hgvs_p": "p.Lys845fs",
"transcript": "ENST00000343344.8",
"protein_id": "ENSP00000341835.4",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 938,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343344.8"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.1664delA",
"hgvs_p": "p.Lys555fs",
"transcript": "ENST00000443061.1",
"protein_id": "ENSP00000400148.2",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 648,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44-AS1",
"gene_hgnc_id": 55326,
"hgvs_c": "n.459delT",
"hgvs_p": null,
"transcript": "ENST00000584772.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000584772.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2552delA",
"hgvs_p": "p.Lys851fs",
"transcript": "ENST00000860866.1",
"protein_id": "ENSP00000530925.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 944,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860866.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2534delA",
"hgvs_p": "p.Lys845fs",
"transcript": "NM_153604.4",
"protein_id": "NP_705832.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 938,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153604.4"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2441delA",
"hgvs_p": "p.Lys814fs",
"transcript": "NM_001378306.1",
"protein_id": "NP_001365235.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 907,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378306.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2318delA",
"hgvs_p": "p.Lys773fs",
"transcript": "ENST00000968132.1",
"protein_id": "ENSP00000638191.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 866,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968132.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.1337delA",
"hgvs_p": "p.Lys446fs",
"transcript": "ENST00000860865.1",
"protein_id": "ENSP00000530924.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 539,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860865.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2552delA",
"hgvs_p": "p.Lys851fs",
"transcript": "XM_017025342.1",
"protein_id": "XP_016880831.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 944,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025342.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"hgvs_c": "c.2549delA",
"hgvs_p": "p.Lys850fs",
"transcript": "XM_005256863.1",
"protein_id": "XP_005256920.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 943,
"cds_start": 2549,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44-AS1",
"gene_hgnc_id": 55326,
"hgvs_c": "n.501delT",
"hgvs_p": null,
"transcript": "NR_104607.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_104607.1"
}
],
"gene_symbol": "MYOCD",
"gene_hgnc_id": 16067,
"dbsnp": "rs193920964",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.167,
"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": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001146312.3",
"gene_symbol": "MYOCD",
"hgnc_id": 16067,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2678delA",
"hgvs_p": "p.Lys893fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000584772.1",
"gene_symbol": "ARHGAP44-AS1",
"hgnc_id": 55326,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.459delT",
"hgvs_p": null
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}