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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: 17-63917810-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63917810&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63917810,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000323322.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "NM_000515.5",
"protein_id": "NP_000506.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 217,
"cds_start": 406,
"cds_end": null,
"cds_length": 654,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 823,
"mane_select": "ENST00000323322.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000323322.10",
"protein_id": "ENSP00000312673.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 217,
"cds_start": 406,
"cds_end": null,
"cds_length": 654,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 823,
"mane_select": "NM_000515.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285947",
"gene_hgnc_id": null,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile",
"transcript": "ENST00000647774.1",
"protein_id": "ENSP00000497443.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 309,
"cds_start": 682,
"cds_end": null,
"cds_length": 930,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
"transcript": "ENST00000458650.6",
"protein_id": "ENSP00000408486.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 202,
"cds_start": 361,
"cds_end": null,
"cds_length": 609,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
"transcript": "NM_022559.4",
"protein_id": "NP_072053.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 202,
"cds_start": 361,
"cds_end": null,
"cds_length": 609,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Val96Ile",
"transcript": "NM_022560.4",
"protein_id": "NP_072054.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 177,
"cds_start": 286,
"cds_end": null,
"cds_length": 534,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Val96Ile",
"transcript": "ENST00000351388.8",
"protein_id": "ENSP00000343791.4",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 177,
"cds_start": 286,
"cds_end": null,
"cds_length": 534,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 685,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "n.767G>A",
"hgvs_p": null,
"transcript": "ENST00000579711.1",
"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": 830,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC112268204",
"gene_hgnc_id": null,
"hgvs_c": "n.409C>T",
"hgvs_p": null,
"transcript": "XR_002958148.2",
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.172-304G>A",
"hgvs_p": null,
"transcript": "ENST00000342364.8",
"protein_id": "ENSP00000339278.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"hgvs_c": "c.11-304G>A",
"hgvs_p": null,
"transcript": "ENST00000617086.1",
"protein_id": "ENSP00000481276.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GH1",
"gene_hgnc_id": 4261,
"dbsnp": "rs5388",
"frequency_reference_population": 0.0076218173,
"hom_count_reference_population": 47,
"allele_count_reference_population": 12303,
"gnomad_exomes_af": 0.00787063,
"gnomad_genomes_af": 0.00523337,
"gnomad_exomes_ac": 11506,
"gnomad_genomes_ac": 797,
"gnomad_exomes_homalt": 44,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028960973024368286,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.804,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "PM1,BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000323322.10",
"gene_symbol": "GH1",
"hgnc_id": 4261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000647774.1",
"gene_symbol": "ENSG00000285947",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_002958148.2",
"gene_symbol": "LOC112268204",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.409C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Decreased response to growth hormone stimulation test,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:1",
"phenotype_combined": "not specified|Decreased response to growth hormone stimulation test|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}