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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: 6-31779043-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31779043&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31779043,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3650G>A",
"hgvs_p": "p.Arg1217His",
"transcript": "NM_006295.3",
"protein_id": "NP_006286.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3650,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3650G>A",
"hgvs_p": "p.Arg1217His",
"transcript": "ENST00000375663.8",
"protein_id": "ENSP00000364815.3",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3650,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Arg1232His",
"transcript": "ENST00000851851.1",
"protein_id": "ENSP00000521910.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3695,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3689G>A",
"hgvs_p": "p.Arg1230His",
"transcript": "ENST00000851849.1",
"protein_id": "ENSP00000521908.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3689,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3683G>A",
"hgvs_p": "p.Arg1228His",
"transcript": "ENST00000941400.1",
"protein_id": "ENSP00000611459.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3683,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3653G>A",
"hgvs_p": "p.Arg1218His",
"transcript": "ENST00000851848.1",
"protein_id": "ENSP00000521907.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3653,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3647G>A",
"hgvs_p": "p.Arg1216His",
"transcript": "ENST00000925769.1",
"protein_id": "ENSP00000595828.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3647,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3650G>A",
"hgvs_p": "p.Arg1217His",
"transcript": "ENST00000941401.1",
"protein_id": "ENSP00000611460.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3650,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3638G>A",
"hgvs_p": "p.Arg1213His",
"transcript": "ENST00000925773.1",
"protein_id": "ENSP00000595832.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3638,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3638G>A",
"hgvs_p": "p.Arg1213His",
"transcript": "ENST00000925774.1",
"protein_id": "ENSP00000595833.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3638,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212His",
"transcript": "ENST00000925775.1",
"protein_id": "ENSP00000595834.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3635,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3632G>A",
"hgvs_p": "p.Arg1211His",
"transcript": "ENST00000925772.1",
"protein_id": "ENSP00000595831.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3632,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3626G>A",
"hgvs_p": "p.Arg1209His",
"transcript": "ENST00000925770.1",
"protein_id": "ENSP00000595829.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3626,
"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": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3524G>A",
"hgvs_p": "p.Arg1175His",
"transcript": "ENST00000925771.1",
"protein_id": "ENSP00000595830.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3524,
"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": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3515G>A",
"hgvs_p": "p.Arg1172His",
"transcript": "ENST00000851850.1",
"protein_id": "ENSP00000521909.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3515,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3515G>A",
"hgvs_p": "p.Arg1172His",
"transcript": "ENST00000925776.1",
"protein_id": "ENSP00000595835.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3515,
"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": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3491G>A",
"hgvs_p": "p.Arg1164His",
"transcript": "ENST00000925768.1",
"protein_id": "ENSP00000595827.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3491,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3653G>A",
"hgvs_p": "p.Arg1218His",
"transcript": "XM_005249362.3",
"protein_id": "XP_005249419.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3653,
"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": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3653G>A",
"hgvs_p": "p.Arg1218His",
"transcript": "XM_047419296.1",
"protein_id": "XP_047275252.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3653,
"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": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3650G>A",
"hgvs_p": "p.Arg1217His",
"transcript": "XM_047419297.1",
"protein_id": "XP_047275253.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3650,
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "Y_RNA",
"gene_hgnc_id": null,
"hgvs_c": "n.-138G>A",
"hgvs_p": null,
"transcript": "ENST00000364685.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "misc_RNA",
"feature": "ENST00000364685.1"
},
{
"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": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "n.*187G>A",
"hgvs_p": null,
"transcript": "ENST00000463184.1",
"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": "ENST00000463184.1"
}
],
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"dbsnp": "rs368075745",
"frequency_reference_population": 0.00014324072,
"hom_count_reference_population": 0,
"allele_count_reference_population": 231,
"gnomad_exomes_af": 0.000106141,
"gnomad_genomes_af": 0.000498858,
"gnomad_exomes_ac": 155,
"gnomad_genomes_ac": 76,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014083325862884521,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1777,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.049,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006295.3",
"gene_symbol": "VARS1",
"hgnc_id": 12651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3650G>A",
"hgvs_p": "p.Arg1217His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000364685.1",
"gene_symbol": "Y_RNA",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-138G>A",
"hgvs_p": null
}
],
"clinvar_disease": " and cortical atrophy, seizures,Neurodevelopmental disorder with microcephaly,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:1 US:4",
"phenotype_combined": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}