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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: 2-73490965-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73490965&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73490965,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000613296.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.9006G>A",
"hgvs_p": "p.Lys3002Lys",
"transcript": "NM_001378454.1",
"protein_id": "NP_001365383.1",
"transcript_support_level": null,
"aa_start": 3002,
"aa_end": null,
"aa_length": 4168,
"cds_start": 9006,
"cds_end": null,
"cds_length": 12507,
"cdna_start": 9039,
"cdna_end": null,
"cdna_length": 12844,
"mane_select": "ENST00000613296.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.9006G>A",
"hgvs_p": "p.Lys3002Lys",
"transcript": "ENST00000613296.6",
"protein_id": "ENSP00000482968.1",
"transcript_support_level": 1,
"aa_start": 3002,
"aa_end": null,
"aa_length": 4168,
"cds_start": 9006,
"cds_end": null,
"cds_length": 12507,
"cdna_start": 9039,
"cdna_end": null,
"cdna_length": 12844,
"mane_select": "NM_001378454.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.8880G>A",
"hgvs_p": "p.Lys2960Lys",
"transcript": "ENST00000484298.5",
"protein_id": "ENSP00000478155.1",
"transcript_support_level": 1,
"aa_start": 2960,
"aa_end": null,
"aa_length": 4126,
"cds_start": 8880,
"cds_end": null,
"cds_length": 12381,
"cdna_start": 8991,
"cdna_end": null,
"cdna_length": 12595,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.3030+807G>A",
"hgvs_p": null,
"transcript": "ENST00000423048.5",
"protein_id": "ENSP00000399833.1",
"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": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.9006G>A",
"hgvs_p": "p.Lys3002Lys",
"transcript": "NM_015120.4",
"protein_id": "NP_055935.4",
"transcript_support_level": null,
"aa_start": 3002,
"aa_end": null,
"aa_length": 4168,
"cds_start": 9006,
"cds_end": null,
"cds_length": 12507,
"cdna_start": 9117,
"cdna_end": null,
"cdna_length": 12925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.8625G>A",
"hgvs_p": "p.Lys2875Lys",
"transcript": "ENST00000684548.1",
"protein_id": "ENSP00000507421.1",
"transcript_support_level": null,
"aa_start": 2875,
"aa_end": null,
"aa_length": 4065,
"cds_start": 8625,
"cds_end": null,
"cds_length": 12198,
"cdna_start": 8625,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.8625G>A",
"hgvs_p": "p.Lys2875Lys",
"transcript": "ENST00000682859.1",
"protein_id": "ENSP00000508222.1",
"transcript_support_level": null,
"aa_start": 2875,
"aa_end": null,
"aa_length": 4041,
"cds_start": 8625,
"cds_end": null,
"cds_length": 12126,
"cdna_start": 8625,
"cdna_end": null,
"cdna_length": 12427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.9006G>A",
"hgvs_p": "p.Lys3002Lys",
"transcript": "ENST00000614410.4",
"protein_id": "ENSP00000479094.1",
"transcript_support_level": 5,
"aa_start": 3002,
"aa_end": null,
"aa_length": 3859,
"cds_start": 9006,
"cds_end": null,
"cds_length": 11580,
"cdna_start": 9006,
"cdna_end": null,
"cdna_length": 11700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.8625G>A",
"hgvs_p": "p.Lys2875Lys",
"transcript": "ENST00000682801.1",
"protein_id": "ENSP00000507862.1",
"transcript_support_level": null,
"aa_start": 2875,
"aa_end": null,
"aa_length": 3852,
"cds_start": 8625,
"cds_end": null,
"cds_length": 11559,
"cdna_start": 8625,
"cdna_end": null,
"cdna_length": 11860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.6075G>A",
"hgvs_p": "p.Lys2025Lys",
"transcript": "ENST00000684460.1",
"protein_id": "ENSP00000506991.1",
"transcript_support_level": null,
"aa_start": 2025,
"aa_end": null,
"aa_length": 3134,
"cds_start": 6075,
"cds_end": null,
"cds_length": 9405,
"cdna_start": 6077,
"cdna_end": null,
"cdna_length": 9692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "c.3072G>A",
"hgvs_p": "p.Lys1024Lys",
"transcript": "ENST00000684590.1",
"protein_id": "ENSP00000507376.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 2190,
"cds_start": 3072,
"cds_end": null,
"cds_length": 6573,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 6874,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.2809G>A",
"hgvs_p": null,
"transcript": "ENST00000620466.4",
"protein_id": null,
"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": 6720,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.102G>A",
"hgvs_p": null,
"transcript": "ENST00000652487.1",
"protein_id": "ENSP00000499118.1",
"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": 3687,
"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": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.8625G>A",
"hgvs_p": null,
"transcript": "ENST00000682565.1",
"protein_id": "ENSP00000507671.1",
"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": 12428,
"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": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.*1367G>A",
"hgvs_p": null,
"transcript": "ENST00000683791.1",
"protein_id": "ENSP00000506916.1",
"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": 5497,
"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": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.6075G>A",
"hgvs_p": null,
"transcript": "ENST00000684656.1",
"protein_id": "ENSP00000508012.1",
"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": 9858,
"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": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.*1367G>A",
"hgvs_p": null,
"transcript": "ENST00000683791.1",
"protein_id": "ENSP00000506916.1",
"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": 5497,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"hgvs_c": "n.895-28810G>A",
"hgvs_p": null,
"transcript": "ENST00000651434.1",
"protein_id": "ENSP00000498259.1",
"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": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALMS1",
"gene_hgnc_id": 428,
"dbsnp": "rs753980616",
"frequency_reference_population": 0.000011628909,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116289,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"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": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.654,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000613296.6",
"gene_symbol": "ALMS1",
"hgnc_id": 428,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9006G>A",
"hgvs_p": "p.Lys3002Lys"
}
],
"clinvar_disease": "Alstrom syndrome,Cardiovascular phenotype",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Alstrom syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}