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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: 16-56389296-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56389296&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56389296,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001323512.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "NM_001144.6",
"protein_id": "NP_001135.3",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 643,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290649.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000290649.10",
"protein_id": "ENSP00000290649.5",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 643,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290649.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "NM_001323512.2",
"protein_id": "NP_001310441.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 675,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323512.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000861442.1",
"protein_id": "ENSP00000531501.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 637,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861442.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000861443.1",
"protein_id": "ENSP00000531502.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 633,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861443.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1126C>T",
"hgvs_p": "p.Arg376Cys",
"transcript": "ENST00000861447.1",
"protein_id": "ENSP00000531506.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 630,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861447.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "ENST00000861439.1",
"protein_id": "ENSP00000531498.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 619,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861439.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000861444.1",
"protein_id": "ENSP00000531503.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 615,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861444.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "ENST00000861441.1",
"protein_id": "ENSP00000531500.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 606,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861441.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000957771.1",
"protein_id": "ENSP00000627830.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 598,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957771.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Cys",
"transcript": "ENST00000957772.1",
"protein_id": "ENSP00000627831.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 588,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957772.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys",
"transcript": "ENST00000861446.1",
"protein_id": "ENSP00000531505.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 570,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861446.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Cys",
"transcript": "NM_001323511.2",
"protein_id": "NP_001310440.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 548,
"cds_start": 880,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323511.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Cys",
"transcript": "ENST00000861440.1",
"protein_id": "ENSP00000531499.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 537,
"cds_start": 847,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861440.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Cys",
"transcript": "ENST00000567738.1",
"protein_id": "ENSP00000456288.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 287,
"cds_start": 310,
"cds_end": null,
"cds_length": 866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567738.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Cys",
"transcript": "XM_005255890.5",
"protein_id": "XP_005255947.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 548,
"cds_start": 880,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255890.5"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.245-3274C>T",
"hgvs_p": null,
"transcript": "ENST00000492830.5",
"protein_id": "ENSP00000473636.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492830.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.256-19969C>T",
"hgvs_p": null,
"transcript": "ENST00000861445.1",
"protein_id": "ENSP00000531504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861445.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "n.44-3274C>T",
"hgvs_p": null,
"transcript": "ENST00000568762.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000568762.1"
}
],
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"dbsnp": "rs187702687",
"frequency_reference_population": 0.000026020725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000246263,
"gnomad_genomes_af": 0.0000394104,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2595752477645874,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.1035,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.165,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323512.2",
"gene_symbol": "AMFR",
"hgnc_id": 463,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Cys"
}
],
"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
}