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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: 11-61965469-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61965469&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61965469,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002032.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "NM_002032.3",
"protein_id": "NP_002023.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 183,
"cds_start": 161,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273550.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002032.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000273550.12",
"protein_id": "ENSP00000273550.7",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 183,
"cds_start": 161,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002032.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273550.12"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000620041.5",
"protein_id": "ENSP00000484477.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 183,
"cds_start": 161,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620041.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.*2320T>C",
"hgvs_p": null,
"transcript": "ENST00000449131.6",
"protein_id": "ENSP00000399709.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449131.6"
},
{
"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": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "n.322A>G",
"hgvs_p": null,
"transcript": "ENST00000534719.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000534719.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000897066.1",
"protein_id": "ENSP00000567125.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 170,
"cds_start": 161,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897066.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000526640.5",
"protein_id": "ENSP00000433321.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 153,
"cds_start": 71,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526640.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000897065.1",
"protein_id": "ENSP00000567124.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 141,
"cds_start": 161,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897065.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg",
"transcript": "ENST00000530019.5",
"protein_id": "ENSP00000433470.1",
"transcript_support_level": 4,
"aa_start": 54,
"aa_end": null,
"aa_length": 113,
"cds_start": 161,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530019.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.-50A>G",
"hgvs_p": null,
"transcript": "ENST00000532601.1",
"protein_id": "ENSP00000435111.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.-50A>G",
"hgvs_p": null,
"transcript": "ENST00000529548.1",
"protein_id": "ENSP00000436947.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.*3116T>C",
"hgvs_p": null,
"transcript": "XM_005274221.5",
"protein_id": "XP_005274278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274221.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.115-357A>G",
"hgvs_p": null,
"transcript": "ENST00000897064.1",
"protein_id": "ENSP00000567123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897064.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.114+1843A>G",
"hgvs_p": null,
"transcript": "ENST00000529191.5",
"protein_id": "ENSP00000431659.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529191.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.115-578A>G",
"hgvs_p": null,
"transcript": "ENST00000897067.1",
"protein_id": "ENSP00000567126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897067.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.114+1843A>G",
"hgvs_p": null,
"transcript": "ENST00000529631.5",
"protein_id": "ENSP00000431575.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": null,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529631.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000532829.5",
"protein_id": "ENSP00000432223.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000532829.5"
},
{
"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": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "n.349A>G",
"hgvs_p": null,
"transcript": "ENST00000533138.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000533138.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "n.*70A>G",
"hgvs_p": null,
"transcript": "ENST00000534180.1",
"protein_id": "ENSP00000434403.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000534180.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "n.*70A>G",
"hgvs_p": null,
"transcript": "ENST00000534180.1",
"protein_id": "ENSP00000434403.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000534180.1"
}
],
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"dbsnp": "rs186448909",
"frequency_reference_population": 0.00271364,
"hom_count_reference_population": 8,
"allele_count_reference_population": 4364,
"gnomad_exomes_af": 0.00279012,
"gnomad_genomes_af": 0.00198264,
"gnomad_exomes_ac": 4062,
"gnomad_genomes_ac": 302,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01565203070640564,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.38,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0907,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.949,
"phylop100way_prediction": "Pathogenic",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002032.3",
"gene_symbol": "FTH1",
"hgnc_id": 3976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Lys54Arg"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000449131.6",
"gene_symbol": "BEST1",
"hgnc_id": 12703,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*2320T>C",
"hgvs_p": null
}
],
"clinvar_disease": " Recessive,Autosomal dominant vitreoretinochoroidopathy,FTH1-related disorder,Hemochromatosis type 5,Iron Overload,Retinitis Pigmentosa,Vitelliform macular dystrophy 2,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"phenotype_combined": "Retinitis Pigmentosa, Recessive|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 2|Iron Overload|not provided|FTH1-related disorder|Hemochromatosis type 5",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}