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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: 2-196993654-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=196993654&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 196993654,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001367495.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "NM_001195144.2",
"protein_id": "NP_001182073.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 993,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282272.15",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195144.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "ENST00000282272.15",
"protein_id": "ENSP00000282272.9",
"transcript_support_level": 5,
"aa_start": 951,
"aa_end": null,
"aa_length": 993,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195144.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282272.15"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2297G>A",
"hgvs_p": "p.Arg766His",
"transcript": "ENST00000424317.5",
"protein_id": "ENSP00000403415.1",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 791,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424317.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His",
"transcript": "NM_001367495.1",
"protein_id": "NP_001354424.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2906,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367495.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "NM_001367497.1",
"protein_id": "NP_001354426.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367497.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "ENST00000647377.1",
"protein_id": "ENSP00000496628.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647377.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His",
"transcript": "ENST00000871701.1",
"protein_id": "ENSP00000541760.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2906,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "NM_001367496.1",
"protein_id": "NP_001354425.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 991,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367496.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944His",
"transcript": "XM_024453216.2",
"protein_id": "XP_024308984.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453216.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944His",
"transcript": "XM_047446282.1",
"protein_id": "XP_047302238.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446282.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2777G>A",
"hgvs_p": "p.Arg926His",
"transcript": "XM_047446283.1",
"protein_id": "XP_047302239.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446283.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His",
"transcript": "XM_047446284.1",
"protein_id": "XP_047302240.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2906,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446284.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His",
"transcript": "XM_005246947.3",
"protein_id": "XP_005247004.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2906,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246947.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "XM_047446285.1",
"protein_id": "XP_047302241.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446285.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His",
"transcript": "XM_006712838.4",
"protein_id": "XP_006712901.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 997,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712838.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His",
"transcript": "XM_005246948.3",
"protein_id": "XP_005247005.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 994,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246948.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "XM_047446286.1",
"protein_id": "XP_047302242.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 979,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446286.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "XM_047446287.1",
"protein_id": "XP_047302243.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 976,
"cds_start": 2852,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "n.3164G>A",
"hgvs_p": null,
"transcript": "NR_160034.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_160034.1"
},
{
"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": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "n.-16G>A",
"hgvs_p": null,
"transcript": "ENST00000486006.1",
"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": "pseudogene",
"feature": "ENST00000486006.1"
}
],
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"dbsnp": "rs767303463",
"frequency_reference_population": 0.000037396192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000400389,
"gnomad_genomes_af": 0.0000131303,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10937973856925964,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.872,
"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_001367495.1",
"gene_symbol": "ANKRD44",
"hgnc_id": 25259,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2906G>A",
"hgvs_p": "p.Arg969His"
}
],
"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
}