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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: 7-16258947-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=16258947&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 16258947,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407010.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.999T>A",
"hgvs_p": "p.Asp333Glu",
"transcript": "NM_001101426.4",
"protein_id": "NP_001094896.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 451,
"cds_start": 999,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": "ENST00000407010.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.999T>A",
"hgvs_p": "p.Asp333Glu",
"transcript": "ENST00000407010.7",
"protein_id": "ENSP00000385478.2",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 451,
"cds_start": 999,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": "NM_001101426.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.849T>A",
"hgvs_p": "p.Asp283Glu",
"transcript": "ENST00000399310.3",
"protein_id": "ENSP00000382249.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 401,
"cds_start": 849,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRPPA-AS1",
"gene_hgnc_id": 48962,
"hgvs_c": "n.222-2952A>T",
"hgvs_p": null,
"transcript": "ENST00000438573.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.894T>A",
"hgvs_p": "p.Asp298Glu",
"transcript": "NM_001368197.1",
"protein_id": "NP_001355126.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 416,
"cds_start": 894,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.849T>A",
"hgvs_p": "p.Asp283Glu",
"transcript": "NM_001101417.4",
"protein_id": "NP_001094887.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 401,
"cds_start": 849,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.696T>A",
"hgvs_p": "p.Asp232Glu",
"transcript": "ENST00000676325.1",
"protein_id": "ENSP00000502074.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 350,
"cds_start": 696,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.591T>A",
"hgvs_p": "p.Asp197Glu",
"transcript": "ENST00000675257.1",
"protein_id": "ENSP00000501664.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 315,
"cds_start": 591,
"cds_end": null,
"cds_length": 948,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "c.696T>A",
"hgvs_p": "p.Asp232Glu",
"transcript": "ENST00000674759.1",
"protein_id": "ENSP00000502749.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 300,
"cds_start": 696,
"cds_end": null,
"cds_length": 903,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"hgvs_c": "n.1064T>A",
"hgvs_p": null,
"transcript": "NR_160656.1",
"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": 5591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRPPA-AS1",
"gene_hgnc_id": 48962,
"hgvs_c": "n.183-7280A>T",
"hgvs_p": null,
"transcript": "ENST00000457112.1",
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRPPA-AS1",
"gene_hgnc_id": 48962,
"hgvs_c": "n.214-7280A>T",
"hgvs_p": null,
"transcript": "ENST00000655000.1",
"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": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRPPA-AS1",
"gene_hgnc_id": 48962,
"hgvs_c": "n.121-7280A>T",
"hgvs_p": null,
"transcript": "ENST00000663812.1",
"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": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRPPA-AS1",
"gene_hgnc_id": 48962,
"hgvs_c": "n.224-2952A>T",
"hgvs_p": null,
"transcript": "NR_038946.1",
"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": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRPPA-AS1",
"gene_hgnc_id": 48962,
"hgvs_c": "n.241-7280A>T",
"hgvs_p": null,
"transcript": "NR_038947.1",
"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": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRPPA",
"gene_hgnc_id": 37276,
"dbsnp": "rs376909665",
"frequency_reference_population": 0.0000020562677,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205627,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.035698503255844116,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.0788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.22,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000407010.7",
"gene_symbol": "CRPPA",
"hgnc_id": 37276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.999T>A",
"hgvs_p": "p.Asp333Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000438573.5",
"gene_symbol": "CRPPA-AS1",
"hgnc_id": 48962,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.222-2952A>T",
"hgvs_p": null
}
],
"clinvar_disease": " 7, type A,Autosomal recessive limb-girdle muscular dystrophy type 2U,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2U;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}