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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: 15-77470997-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77470997&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 77470997,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001304504.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "NM_001304504.2",
"protein_id": "NP_001291433.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": "ENST00000336216.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "ENST00000336216.9",
"protein_id": "ENSP00000336856.4",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": "NM_001304504.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "ENST00000381714.7",
"protein_id": "ENSP00000371133.3",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "NM_018200.4",
"protein_id": "NP_060670.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.199A>C",
"hgvs_p": "p.Ser67Arg",
"transcript": "NM_001304505.2",
"protein_id": "NP_001291434.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 234,
"cds_start": 199,
"cds_end": null,
"cds_length": 705,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "XM_011521158.4",
"protein_id": "XP_011519460.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "XM_047432108.1",
"protein_id": "XP_047288064.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 7453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg",
"transcript": "XM_047432109.1",
"protein_id": "XP_047288065.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 347,
"cds_start": 538,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 7546,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "n.*195A>C",
"hgvs_p": null,
"transcript": "ENST00000559035.5",
"protein_id": "ENSP00000453592.1",
"transcript_support_level": 4,
"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": 563,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "n.659A>C",
"hgvs_p": null,
"transcript": "XR_001751049.3",
"protein_id": null,
"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": 2028,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "n.*195A>C",
"hgvs_p": null,
"transcript": "ENST00000559035.5",
"protein_id": "ENSP00000453592.1",
"transcript_support_level": 4,
"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": 563,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294779",
"gene_hgnc_id": null,
"hgvs_c": "n.93-14368T>G",
"hgvs_p": null,
"transcript": "ENST00000725956.1",
"protein_id": null,
"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": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.*51A>C",
"hgvs_p": null,
"transcript": "ENST00000560867.1",
"protein_id": "ENSP00000452864.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.*68A>C",
"hgvs_p": null,
"transcript": "ENST00000559099.5",
"protein_id": "ENSP00000454136.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"dbsnp": "rs1356460765",
"frequency_reference_population": 0.0000013687999,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013688,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2984674572944641,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.7931,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001304504.2",
"gene_symbol": "HMG20A",
"hgnc_id": 5001,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Ser180Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000725956.1",
"gene_symbol": "ENSG00000294779",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.93-14368T>G",
"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
}