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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: 16-56401760-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56401760&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56401760,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001323512.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "NM_001144.6",
"protein_id": "NP_001135.3",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 643,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "ENST00000290649.10",
"protein_id": "ENSP00000290649.5",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 643,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "NM_001323512.2",
"protein_id": "NP_001310441.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 675,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "ENST00000861442.1",
"protein_id": "ENSP00000531501.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 637,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "ENST00000861443.1",
"protein_id": "ENSP00000531502.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 633,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1019A>C",
"hgvs_p": "p.Lys340Thr",
"transcript": "ENST00000861447.1",
"protein_id": "ENSP00000531506.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 630,
"cds_start": 1019,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.986A>C",
"hgvs_p": "p.Lys329Thr",
"transcript": "ENST00000861439.1",
"protein_id": "ENSP00000531498.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 619,
"cds_start": 986,
"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": "K",
"aa_alt": "T",
"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.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "ENST00000861444.1",
"protein_id": "ENSP00000531503.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 615,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"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.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "ENST00000957771.1",
"protein_id": "ENSP00000627830.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 598,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.893A>C",
"hgvs_p": "p.Lys298Thr",
"transcript": "ENST00000957772.1",
"protein_id": "ENSP00000627831.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 588,
"cds_start": 893,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr",
"transcript": "ENST00000861446.1",
"protein_id": "ENSP00000531505.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 570,
"cds_start": 1058,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.773A>C",
"hgvs_p": "p.Lys258Thr",
"transcript": "NM_001323511.2",
"protein_id": "NP_001310440.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 548,
"cds_start": 773,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.740A>C",
"hgvs_p": "p.Lys247Thr",
"transcript": "ENST00000861440.1",
"protein_id": "ENSP00000531499.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 537,
"cds_start": 740,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.217A>C",
"hgvs_p": "p.Asn73His",
"transcript": "ENST00000492830.5",
"protein_id": "ENSP00000473636.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 299,
"cds_start": 217,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.Lys68Thr",
"transcript": "ENST00000567738.1",
"protein_id": "ENSP00000456288.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 287,
"cds_start": 203,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.773A>C",
"hgvs_p": "p.Lys258Thr",
"transcript": "XM_005255890.5",
"protein_id": "XP_005255947.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 548,
"cds_start": 773,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "c.974+1225A>C",
"hgvs_p": null,
"transcript": "ENST00000861441.1",
"protein_id": "ENSP00000531500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"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": 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.255+23313A>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "n.16A>C",
"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": "rs150798359",
"frequency_reference_population": 0.000006571511,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6540674567222595,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.327,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9204,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.032,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323512.2",
"gene_symbol": "AMFR",
"hgnc_id": 463,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1058A>C",
"hgvs_p": "p.Lys353Thr"
}
],
"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
}