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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: 1-207587459-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207587459&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207587459,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000367049.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.5604C>A",
"hgvs_p": "p.Val1868Val",
"transcript": "NM_000651.6",
"protein_id": "NP_000642.3",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2489,
"cds_start": 5604,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 5715,
"cdna_end": null,
"cdna_length": 9937,
"mane_select": "ENST00000367049.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.5604C>A",
"hgvs_p": "p.Val1868Val",
"transcript": "ENST00000367049.9",
"protein_id": "ENSP00000356016.4",
"transcript_support_level": 5,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2489,
"cds_start": 5604,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 5715,
"cdna_end": null,
"cdna_length": 9937,
"mane_select": "NM_000651.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4254C>A",
"hgvs_p": "p.Val1418Val",
"transcript": "ENST00000400960.7",
"protein_id": "ENSP00000383744.2",
"transcript_support_level": 1,
"aa_start": 1418,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4254,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4375,
"cdna_end": null,
"cdna_length": 8597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4254C>A",
"hgvs_p": "p.Val1418Val",
"transcript": "ENST00000367051.6",
"protein_id": "ENSP00000356018.1",
"transcript_support_level": 5,
"aa_start": 1418,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4254,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4279,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4254C>A",
"hgvs_p": "p.Val1418Val",
"transcript": "ENST00000367052.6",
"protein_id": "ENSP00000356019.1",
"transcript_support_level": 5,
"aa_start": 1418,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4254,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4279,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.4254C>A",
"hgvs_p": "p.Val1418Val",
"transcript": "ENST00000367053.6",
"protein_id": "ENSP00000356020.1",
"transcript_support_level": 5,
"aa_start": 1418,
"aa_end": null,
"aa_length": 2039,
"cds_start": 4254,
"cds_end": null,
"cds_length": 6120,
"cdna_start": 4279,
"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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.*1369C>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": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "n.*1369C>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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"hgvs_c": "c.1177+21536C>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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CR1-AS1",
"gene_hgnc_id": 40160,
"hgvs_c": "n.352+11387G>T",
"hgvs_p": null,
"transcript": "ENST00000596003.4",
"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": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CR1-AS1",
"gene_hgnc_id": 40160,
"hgvs_c": "n.352+11387G>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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CR1-AS1",
"gene_hgnc_id": 40160,
"hgvs_c": "n.558+11387G>T",
"hgvs_p": null,
"transcript": "ENST00000623503.1",
"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": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CR1",
"gene_hgnc_id": 2334,
"dbsnp": "rs12144461",
"frequency_reference_population": 0.0000034209413,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342094,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.302,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367049.9",
"gene_symbol": "CR1",
"hgnc_id": 2334,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.5604C>A",
"hgvs_p": "p.Val1868Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000596003.4",
"gene_symbol": "CR1-AS1",
"hgnc_id": 40160,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.352+11387G>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
}