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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: 12-77025785-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=77025785&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 77025785,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_203394.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Pro780Thr",
"transcript": "NM_203394.3",
"protein_id": "NP_976328.2",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 911,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": "ENST00000322886.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203394.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Pro780Thr",
"transcript": "ENST00000322886.12",
"protein_id": "ENSP00000323246.7",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 911,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": "NM_203394.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322886.12"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2299C>A",
"hgvs_p": "p.Pro767Thr",
"transcript": "ENST00000919447.1",
"protein_id": "ENSP00000589506.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 898,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919447.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2203C>A",
"hgvs_p": "p.Pro735Thr",
"transcript": "ENST00000919446.1",
"protein_id": "ENSP00000589505.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 866,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919446.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2203C>A",
"hgvs_p": "p.Pro735Thr",
"transcript": "XM_011537966.3",
"protein_id": "XP_011536268.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 866,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537966.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2035C>A",
"hgvs_p": "p.Pro679Thr",
"transcript": "XM_011537969.3",
"protein_id": "XP_011536271.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 810,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537969.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"hgvs_c": "c.2141-1600C>A",
"hgvs_p": null,
"transcript": "ENST00000416496.6",
"protein_id": "ENSP00000393639.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": null,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416496.6"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294230",
"gene_hgnc_id": null,
"hgvs_c": "n.62+14901G>T",
"hgvs_p": null,
"transcript": "ENST00000721992.1",
"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": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000721992.1"
}
],
"gene_symbol": "E2F7",
"gene_hgnc_id": 23820,
"dbsnp": "rs149357353",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16133689880371094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.598,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_203394.3",
"gene_symbol": "E2F7",
"hgnc_id": 23820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Pro780Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000721992.1",
"gene_symbol": "ENSG00000294230",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.62+14901G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}