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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: 6-31780526-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31780526&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31780526,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006295.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "NM_006295.3",
"protein_id": "NP_006286.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375663.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006295.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "ENST00000375663.8",
"protein_id": "ENSP00000364815.3",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006295.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375663.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962His",
"transcript": "ENST00000851851.1",
"protein_id": "ENSP00000521910.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851851.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2879G>A",
"hgvs_p": "p.Arg960His",
"transcript": "ENST00000851849.1",
"protein_id": "ENSP00000521908.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1277,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851849.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2873G>A",
"hgvs_p": "p.Arg958His",
"transcript": "ENST00000941400.1",
"protein_id": "ENSP00000611459.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1275,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941400.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Arg948His",
"transcript": "ENST00000851848.1",
"protein_id": "ENSP00000521907.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851848.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2837G>A",
"hgvs_p": "p.Arg946His",
"transcript": "ENST00000925769.1",
"protein_id": "ENSP00000595828.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1263,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925769.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "ENST00000941401.1",
"protein_id": "ENSP00000611460.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941401.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "ENST00000925773.1",
"protein_id": "ENSP00000595832.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925773.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "ENST00000925774.1",
"protein_id": "ENSP00000595833.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925774.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2825G>A",
"hgvs_p": "p.Arg942His",
"transcript": "ENST00000925775.1",
"protein_id": "ENSP00000595834.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925775.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941His",
"transcript": "ENST00000925772.1",
"protein_id": "ENSP00000595831.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925772.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2816G>A",
"hgvs_p": "p.Arg939His",
"transcript": "ENST00000925770.1",
"protein_id": "ENSP00000595829.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2816,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925770.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Arg905His",
"transcript": "ENST00000925771.1",
"protein_id": "ENSP00000595830.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2714,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925771.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2705G>A",
"hgvs_p": "p.Arg902His",
"transcript": "ENST00000851850.1",
"protein_id": "ENSP00000521909.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851850.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2705G>A",
"hgvs_p": "p.Arg902His",
"transcript": "ENST00000925776.1",
"protein_id": "ENSP00000595835.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925776.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000925768.1",
"protein_id": "ENSP00000595827.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2681,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925768.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264His",
"transcript": "ENST00000428445.1",
"protein_id": "ENSP00000415679.1",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 286,
"cds_start": 791,
"cds_end": null,
"cds_length": 862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428445.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Arg948His",
"transcript": "XM_005249362.3",
"protein_id": "XP_005249419.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249362.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2843G>A",
"hgvs_p": "p.Arg948His",
"transcript": "XM_047419296.1",
"protein_id": "XP_047275252.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419296.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "XM_047419297.1",
"protein_id": "XP_047275253.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419297.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "n.*25G>A",
"hgvs_p": null,
"transcript": "ENST00000482996.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482996.5"
}
],
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"dbsnp": "rs150882285",
"frequency_reference_population": 0.000004956918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342069,
"gnomad_genomes_af": 0.0000197094,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8697041273117065,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.517,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5694,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.244,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006295.3",
"gene_symbol": "VARS1",
"hgnc_id": 12651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His"
}
],
"clinvar_disease": " and cortical atrophy, seizures,Neurodevelopmental disorder with microcephaly,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}