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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: 16-56401840-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56401840&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56401840,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001323512.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "NM_001144.6",
"protein_id": "NP_001135.3",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 643,
"cds_start": 978,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "ENST00000290649.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000290649.10",
"protein_id": "ENSP00000290649.5",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 643,
"cds_start": 978,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "NM_001144.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290649.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "NM_001323512.2",
"protein_id": "NP_001310441.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 675,
"cds_start": 978,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323512.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000861442.1",
"protein_id": "ENSP00000531501.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 637,
"cds_start": 978,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861442.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000861443.1",
"protein_id": "ENSP00000531502.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 633,
"cds_start": 978,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861443.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.939T>G",
"hgvs_p": "p.Phe313Leu",
"transcript": "ENST00000861447.1",
"protein_id": "ENSP00000531506.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 630,
"cds_start": 939,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861447.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.906T>G",
"hgvs_p": "p.Phe302Leu",
"transcript": "ENST00000861439.1",
"protein_id": "ENSP00000531498.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 619,
"cds_start": 906,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861439.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000861444.1",
"protein_id": "ENSP00000531503.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 615,
"cds_start": 978,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861444.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000957771.1",
"protein_id": "ENSP00000627830.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 598,
"cds_start": 978,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957771.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.813T>G",
"hgvs_p": "p.Phe271Leu",
"transcript": "ENST00000957772.1",
"protein_id": "ENSP00000627831.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 588,
"cds_start": 813,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957772.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978T>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000861446.1",
"protein_id": "ENSP00000531505.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 570,
"cds_start": 978,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861446.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.693T>G",
"hgvs_p": "p.Phe231Leu",
"transcript": "NM_001323511.2",
"protein_id": "NP_001310440.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 548,
"cds_start": 693,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323511.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.660T>G",
"hgvs_p": "p.Phe220Leu",
"transcript": "ENST00000861440.1",
"protein_id": "ENSP00000531499.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 537,
"cds_start": 660,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861440.1"
},
{
"aa_ref": "L",
"aa_alt": "W",
"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.137T>G",
"hgvs_p": "p.Leu46Trp",
"transcript": "ENST00000492830.5",
"protein_id": "ENSP00000473636.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 299,
"cds_start": 137,
"cds_end": null,
"cds_length": 900,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492830.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.123T>G",
"hgvs_p": "p.Phe41Leu",
"transcript": "ENST00000567738.1",
"protein_id": "ENSP00000456288.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 287,
"cds_start": 123,
"cds_end": null,
"cds_length": 866,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567738.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.693T>G",
"hgvs_p": "p.Phe231Leu",
"transcript": "XM_005255890.5",
"protein_id": "XP_005255947.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 548,
"cds_start": 693,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 4199,
"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+1145T>G",
"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": 3423,
"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+23233T>G",
"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": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"hgvs_c": "n.-65T>G",
"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": 424,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000568762.1"
}
],
"gene_symbol": "AMFR",
"gene_hgnc_id": 463,
"dbsnp": "rs369433667",
"frequency_reference_population": 0.0000012394569,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84287e-7,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5904781818389893,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.43,
"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": 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.978T>G",
"hgvs_p": "p.Phe326Leu"
}
],
"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
}