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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: 4-68314261-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=68314261&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "YTHDC1",
"hgnc_id": 30626,
"hgvs_c": "c.2045_2046delGGinsAA",
"hgvs_p": "p.Arg682Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001330698.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001031732.4",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.2021_2022delGGinsAA",
"hgvs_p": "p.Arg674Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344157.9",
"protein_coding": true,
"protein_id": "NP_001026902.1",
"strand": false,
"transcript": "NM_001031732.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344157.9",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.2021_2022delGGinsAA",
"hgvs_p": "p.Arg674Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031732.4",
"protein_coding": true,
"protein_id": "ENSP00000339245.4",
"strand": false,
"transcript": "ENST00000344157.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 709,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355665.7",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.1967_1968delGGinsAA",
"hgvs_p": "p.Arg656Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347888.3",
"strand": false,
"transcript": "ENST00000355665.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2114,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936188.1",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.2114_2115delGGinsAA",
"hgvs_p": "p.Arg705Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606247.1",
"strand": false,
"transcript": "ENST00000936188.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 735,
"aa_ref": "R",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6257,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2208,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330698.2",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.2045_2046delGGinsAA",
"hgvs_p": "p.Arg682Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317627.1",
"strand": false,
"transcript": "NM_001330698.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 735,
"aa_ref": "R",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2208,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579690.5",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.2045_2046delGGinsAA",
"hgvs_p": "p.Arg682Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463982.1",
"strand": false,
"transcript": "ENST00000579690.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3451,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910853.1",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.1991_1992delGGinsAA",
"hgvs_p": "p.Arg664Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580912.1",
"strand": false,
"transcript": "ENST00000910853.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910854.1",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.1970_1971delGGinsAA",
"hgvs_p": "p.Arg657Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580913.1",
"strand": false,
"transcript": "ENST00000910854.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 709,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133370.4",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.1967_1968delGGinsAA",
"hgvs_p": "p.Arg656Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_588611.2",
"strand": false,
"transcript": "NM_133370.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 706,
"aa_ref": "R",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1958,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936187.1",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.1958_1959delGGinsAA",
"hgvs_p": "p.Arg653Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606246.1",
"strand": false,
"transcript": "ENST00000936187.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6203,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005265708.4",
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"hgvs_c": "c.1991_1992delGGinsAA",
"hgvs_p": "p.Arg664Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265765.1",
"strand": false,
"transcript": "XM_005265708.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30626,
"gene_symbol": "YTHDC1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.101,
"pos": 68314261,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001330698.2"
}
]
}