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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: 19-32598239-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=32598239&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 32598239,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032139.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Gln",
"transcript": "NM_032139.3",
"protein_id": "NP_115515.2",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3059,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Gln",
"transcript": "ENST00000306065.9",
"protein_id": "ENSP00000304292.3",
"transcript_support_level": 1,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3059,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3188G>A",
"hgvs_p": "p.Arg1063Gln",
"transcript": "ENST00000879691.1",
"protein_id": "ENSP00000549750.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3188,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Gln",
"transcript": "ENST00000879693.1",
"protein_id": "ENSP00000549752.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3059,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Gln",
"transcript": "ENST00000920856.1",
"protein_id": "ENSP00000590915.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3059,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Gln",
"transcript": "ENST00000964140.1",
"protein_id": "ENSP00000634199.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3059,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3020G>A",
"hgvs_p": "p.Arg1007Gln",
"transcript": "ENST00000879687.1",
"protein_id": "ENSP00000549746.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3020,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3014G>A",
"hgvs_p": "p.Arg1005Gln",
"transcript": "ENST00000879685.1",
"protein_id": "ENSP00000549744.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3014,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.3011G>A",
"hgvs_p": "p.Arg1004Gln",
"transcript": "ENST00000920854.1",
"protein_id": "ENSP00000590913.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3011,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2999G>A",
"hgvs_p": "p.Arg1000Gln",
"transcript": "ENST00000879688.1",
"protein_id": "ENSP00000549747.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2999,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2990G>A",
"hgvs_p": "p.Arg997Gln",
"transcript": "ENST00000920857.1",
"protein_id": "ENSP00000590916.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2990,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2966G>A",
"hgvs_p": "p.Arg989Gln",
"transcript": "ENST00000920853.1",
"protein_id": "ENSP00000590912.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2966,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2939G>A",
"hgvs_p": "p.Arg980Gln",
"transcript": "ENST00000879686.1",
"protein_id": "ENSP00000549745.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2939,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2939G>A",
"hgvs_p": "p.Arg980Gln",
"transcript": "ENST00000964141.1",
"protein_id": "ENSP00000634200.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2939,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2936G>A",
"hgvs_p": "p.Arg979Gln",
"transcript": "ENST00000879689.1",
"protein_id": "ENSP00000549748.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2936,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954Gln",
"transcript": "ENST00000879692.1",
"protein_id": "ENSP00000549751.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 984,
"cds_start": 2861,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954Gln",
"transcript": "ENST00000920852.1",
"protein_id": "ENSP00000590911.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 984,
"cds_start": 2861,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2858G>A",
"hgvs_p": "p.Arg953Gln",
"transcript": "ENST00000920855.1",
"protein_id": "ENSP00000590914.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 983,
"cds_start": 2858,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917Gln",
"transcript": "ENST00000879690.1",
"protein_id": "ENSP00000549749.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 947,
"cds_start": 2750,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823Gln",
"transcript": "ENST00000964138.1",
"protein_id": "ENSP00000634197.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 853,
"cds_start": 2468,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "c.2216G>A",
"hgvs_p": "p.Arg739Gln",
"transcript": "ENST00000964139.1",
"protein_id": "ENSP00000634198.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 769,
"cds_start": 2216,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"hgvs_c": "n.*89G>A",
"hgvs_p": null,
"transcript": "ENST00000587667.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000587667.1"
}
],
"gene_symbol": "ANKRD27",
"gene_hgnc_id": 25310,
"dbsnp": "rs761754846",
"frequency_reference_population": 0.000043367283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000451472,
"gnomad_genomes_af": 0.0000262753,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08919471502304077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1086,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.566,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032139.3",
"gene_symbol": "ANKRD27",
"hgnc_id": 25310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Gln"
}
],
"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
}