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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: 1-207552816-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207552816&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207552816,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000367049.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.3066G>A",
"hgvs_p": "p.Gln1022Gln",
"transcript": "NM_000651.6",
"protein_id": "NP_000642.3",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 2489,
"cds_start": 3066,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 9937,
"mane_select": "ENST00000367049.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.3066G>A",
"hgvs_p": "p.Gln1022Gln",
"transcript": "ENST00000367049.9",
"protein_id": "ENSP00000356016.4",
"transcript_support_level": 5,
"aa_start": 1022,
"aa_end": null,
"aa_length": 2489,
"cds_start": 3066,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 9937,
"mane_select": "NM_000651.6",
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.1837G>A",
"hgvs_p": null,
"transcript": "ENST00000367050.8",
"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": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.2236+10236G>A",
"hgvs_p": null,
"transcript": "ENST00000400960.7",
"protein_id": "ENSP00000383744.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Gln572Gln",
"transcript": "ENST00000367051.6",
"protein_id": "ENSP00000356018.1",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 2039,
"cds_start": 1716,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.3066G>A",
"hgvs_p": "p.Gln1022Gln",
"transcript": "ENST00000367052.6",
"protein_id": "ENSP00000356019.1",
"transcript_support_level": 5,
"aa_start": 1022,
"aa_end": null,
"aa_length": 2039,
"cds_start": 3066,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 3091,
"cdna_end": null,
"cdna_length": 6948,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1-AS1",
"gene_hgnc_id": 40160,
"hgvs_c": "n.164C>T",
"hgvs_p": null,
"transcript": "ENST00000439443.1",
"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": 682,
"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": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.1716G>A",
"hgvs_p": null,
"transcript": "ENST00000534202.5",
"protein_id": "ENSP00000436139.2",
"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": 3740,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1-AS1",
"gene_hgnc_id": 40160,
"hgvs_c": "n.517C>T",
"hgvs_p": null,
"transcript": "ENST00000597497.5",
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.1838-7923G>A",
"hgvs_p": null,
"transcript": "ENST00000367053.6",
"protein_id": "ENSP00000356020.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.988+7332G>A",
"hgvs_p": null,
"transcript": "ENST00000529814.1",
"protein_id": "ENSP00000434718.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1981,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.415-7923G>A",
"hgvs_p": null,
"transcript": "ENST00000436595.1",
"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": 2377,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.1179+5460G>A",
"hgvs_p": null,
"transcript": "ENST00000450439.5",
"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": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"dbsnp": "rs3738467",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000106906,
"gnomad_genomes_af": 0.0000115455,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.459,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367049.9",
"gene_symbol": "CR1",
"hgnc_id": 2334,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.3066G>A",
"hgvs_p": "p.Gln1022Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000439443.1",
"gene_symbol": "CR1-AS1",
"hgnc_id": 40160,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.164C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}