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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: 17-60150074-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=60150074&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 60150074,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000300900.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "NM_000717.5",
"protein_id": "NP_000708.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 312,
"cds_start": 40,
"cds_end": null,
"cds_length": 939,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": "ENST00000300900.9",
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "ENST00000300900.9",
"protein_id": "ENSP00000300900.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 312,
"cds_start": 40,
"cds_end": null,
"cds_length": 939,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": "NM_000717.5",
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_005257639.4",
"protein_id": "XP_005257696.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 336,
"cds_start": 40,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 1195,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436650.1",
"protein_id": "XP_047292606.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 336,
"cds_start": 40,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 4453,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436651.1",
"protein_id": "XP_047292607.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 336,
"cds_start": 40,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 3652,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436652.1",
"protein_id": "XP_047292608.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 336,
"cds_start": 40,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 4349,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436653.1",
"protein_id": "XP_047292609.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 312,
"cds_start": 40,
"cds_end": null,
"cds_length": 939,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 4381,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436654.1",
"protein_id": "XP_047292610.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 312,
"cds_start": 40,
"cds_end": null,
"cds_length": 939,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 3580,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436655.1",
"protein_id": "XP_047292611.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 312,
"cds_start": 40,
"cds_end": null,
"cds_length": 939,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 4277,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_047436656.1",
"protein_id": "XP_047292612.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 312,
"cds_start": 40,
"cds_end": null,
"cds_length": 939,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 2139,
"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": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "n.133C>T",
"hgvs_p": null,
"transcript": "ENST00000585705.5",
"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": 598,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "n.40C>T",
"hgvs_p": null,
"transcript": "ENST00000586876.1",
"protein_id": "ENSP00000467465.1",
"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": 941,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"transcript": "NR_137422.2",
"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": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"hgvs_c": "c.-319C>T",
"hgvs_p": null,
"transcript": "ENST00000591725.1",
"protein_id": "ENSP00000466964.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": -4,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CA4",
"gene_hgnc_id": 1375,
"dbsnp": "rs104894559",
"frequency_reference_population": 0.00016694116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 267,
"gnomad_exomes_af": 0.000170007,
"gnomad_genomes_af": 0.000137826,
"gnomad_exomes_ac": 246,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6493683457374573,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2311,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.734,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000300900.9",
"gene_symbol": "CA4",
"hgnc_id": 1375,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp"
}
],
"clinvar_disease": "CA4-related disorder,Retinitis pigmentosa,Retinitis pigmentosa 17,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "not provided|Retinitis pigmentosa|Retinitis pigmentosa 17|CA4-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}