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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: 19-32604340-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=32604340&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 32604340,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032139.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"transcript": "NM_032139.3",
"protein_id": "NP_115515.2",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306065.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032139.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"transcript": "ENST00000306065.9",
"protein_id": "ENSP00000304292.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032139.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306065.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2707G>A",
"hgvs_p": "p.Glu903Lys",
"transcript": "ENST00000879691.1",
"protein_id": "ENSP00000549750.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2707,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879691.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"transcript": "ENST00000879693.1",
"protein_id": "ENSP00000549752.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879693.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"transcript": "ENST00000920856.1",
"protein_id": "ENSP00000590915.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920856.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"transcript": "ENST00000964140.1",
"protein_id": "ENSP00000634199.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964140.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys",
"transcript": "ENST00000879687.1",
"protein_id": "ENSP00000549746.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879687.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2533G>A",
"hgvs_p": "p.Glu845Lys",
"transcript": "ENST00000879685.1",
"protein_id": "ENSP00000549744.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2533,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879685.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2530G>A",
"hgvs_p": "p.Glu844Lys",
"transcript": "ENST00000920854.1",
"protein_id": "ENSP00000590913.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2530,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920854.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys",
"transcript": "ENST00000879688.1",
"protein_id": "ENSP00000549747.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2518,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879688.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Glu837Lys",
"transcript": "ENST00000920857.1",
"protein_id": "ENSP00000590916.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2509,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920857.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Glu829Lys",
"transcript": "ENST00000920853.1",
"protein_id": "ENSP00000590912.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920853.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2458G>A",
"hgvs_p": "p.Glu820Lys",
"transcript": "ENST00000879686.1",
"protein_id": "ENSP00000549745.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2458,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879686.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2458G>A",
"hgvs_p": "p.Glu820Lys",
"transcript": "ENST00000964141.1",
"protein_id": "ENSP00000634200.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2458,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964141.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000879689.1",
"protein_id": "ENSP00000549748.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879689.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2380G>A",
"hgvs_p": "p.Glu794Lys",
"transcript": "ENST00000879692.1",
"protein_id": "ENSP00000549751.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 984,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879692.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2380G>A",
"hgvs_p": "p.Glu794Lys",
"transcript": "ENST00000920852.1",
"protein_id": "ENSP00000590911.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 984,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920852.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Glu793Lys",
"transcript": "ENST00000920855.1",
"protein_id": "ENSP00000590914.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 983,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920855.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2269G>A",
"hgvs_p": "p.Glu757Lys",
"transcript": "ENST00000879690.1",
"protein_id": "ENSP00000549749.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 947,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879690.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"transcript": "ENST00000964138.1",
"protein_id": "ENSP00000634197.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 853,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964138.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Glu579Lys",
"transcript": "ENST00000964139.1",
"protein_id": "ENSP00000634198.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 769,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964139.1"
}
],
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"dbsnp": "rs368048040",
"frequency_reference_population": 0.0000037176333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000136826,
"gnomad_genomes_af": 0.0000262778,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4141465425491333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.5706,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.818,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032139.3",
"gene_symbol": "ANKRD27",
"hgnc_id": 25310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys"
}
],
"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
}