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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: 14-104741972-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104741972&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104741972,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000330877.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.919delA",
"hgvs_p": "p.Ile307fs",
"transcript": "NM_152328.5",
"protein_id": "NP_689541.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 457,
"cds_start": 919,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": "ENST00000330877.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.919delA",
"hgvs_p": "p.Ile307fs",
"transcript": "ENST00000330877.7",
"protein_id": "ENSP00000331260.2",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 457,
"cds_start": 919,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": "NM_152328.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.1048delA",
"hgvs_p": "p.Ile350fs",
"transcript": "ENST00000332972.9",
"protein_id": "ENSP00000333019.5",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 500,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.1048delA",
"hgvs_p": "p.Ile350fs",
"transcript": "NM_199165.2",
"protein_id": "NP_954634.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 500,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.919delA",
"hgvs_p": "p.Ile307fs",
"transcript": "ENST00000710323.1",
"protein_id": "ENSP00000518203.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 457,
"cds_start": 919,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.304delA",
"hgvs_p": "p.Ile102fs",
"transcript": "NM_001320424.1",
"protein_id": "NP_001307353.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 252,
"cds_start": 304,
"cds_end": null,
"cds_length": 759,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.1051delA",
"hgvs_p": "p.Ile351fs",
"transcript": "XM_011536412.3",
"protein_id": "XP_011534714.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 501,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.922delA",
"hgvs_p": "p.Ile308fs",
"transcript": "XM_006720026.4",
"protein_id": "XP_006720089.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 458,
"cds_start": 922,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.679delA",
"hgvs_p": "p.Ile227fs",
"transcript": "XM_047430916.1",
"protein_id": "XP_047286872.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 377,
"cds_start": 679,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "c.676delA",
"hgvs_p": "p.Ile226fs",
"transcript": "XM_047430917.1",
"protein_id": "XP_047286873.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 376,
"cds_start": 676,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1553,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "n.*350delA",
"hgvs_p": null,
"transcript": "ENST00000553540.5",
"protein_id": "ENSP00000450759.1",
"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": 1791,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "n.31delA",
"hgvs_p": null,
"transcript": "ENST00000553580.1",
"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": 337,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "n.54delA",
"hgvs_p": null,
"transcript": "ENST00000554281.1",
"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": 567,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "n.984delA",
"hgvs_p": null,
"transcript": "ENST00000555486.5",
"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": 1012,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "n.1840delA",
"hgvs_p": null,
"transcript": "ENST00000557582.5",
"protein_id": null,
"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": 2600,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"hgvs_c": "n.*350delA",
"hgvs_p": null,
"transcript": "ENST00000553540.5",
"protein_id": "ENSP00000450759.1",
"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": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADSS1",
"gene_hgnc_id": 20093,
"dbsnp": "rs559454746",
"frequency_reference_population": 0.00018038614,
"hom_count_reference_population": 2,
"allele_count_reference_population": 291,
"gnomad_exomes_af": 0.000190298,
"gnomad_genomes_af": 0.0000853377,
"gnomad_exomes_ac": 278,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"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": 5.279,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong,BS1_Supporting,BS2_Supporting",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 2,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong",
"BS1_Supporting",
"BS2_Supporting"
],
"verdict": "Pathogenic",
"transcript": "ENST00000330877.7",
"gene_symbol": "ADSS1",
"hgnc_id": 20093,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.919delA",
"hgvs_p": "p.Ile307fs"
}
],
"clinvar_disease": " 5, distal,Myopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Myopathy, distal, 5|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}