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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: 7-38726949-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=38726949&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 38726949,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014396.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2444G>C",
"hgvs_p": "p.Arg815Pro",
"transcript": "NM_014396.4",
"protein_id": "NP_055211.2",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 854,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310301.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014396.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2444G>C",
"hgvs_p": "p.Arg815Pro",
"transcript": "ENST00000310301.9",
"protein_id": "ENSP00000309457.4",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 854,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014396.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310301.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.*129G>C",
"hgvs_p": null,
"transcript": "ENST00000448833.5",
"protein_id": "ENSP00000391980.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000448833.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.*129G>C",
"hgvs_p": null,
"transcript": "ENST00000448833.5",
"protein_id": "ENSP00000391980.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000448833.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2540G>C",
"hgvs_p": "p.Arg847Pro",
"transcript": "ENST00000951460.1",
"protein_id": "ENSP00000621519.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 886,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951460.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2468G>C",
"hgvs_p": "p.Arg823Pro",
"transcript": "ENST00000862388.1",
"protein_id": "ENSP00000532447.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 862,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862388.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2438G>C",
"hgvs_p": "p.Arg813Pro",
"transcript": "ENST00000951459.1",
"protein_id": "ENSP00000621518.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 852,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951459.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2435G>C",
"hgvs_p": "p.Arg812Pro",
"transcript": "ENST00000951462.1",
"protein_id": "ENSP00000621521.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 851,
"cds_start": 2435,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951462.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2429G>C",
"hgvs_p": "p.Arg810Pro",
"transcript": "ENST00000862386.1",
"protein_id": "ENSP00000532445.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 849,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862386.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2399G>C",
"hgvs_p": "p.Arg800Pro",
"transcript": "ENST00000862390.1",
"protein_id": "ENSP00000532449.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 839,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862390.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2393G>C",
"hgvs_p": "p.Arg798Pro",
"transcript": "ENST00000951461.1",
"protein_id": "ENSP00000621520.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 837,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951461.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2369G>C",
"hgvs_p": "p.Arg790Pro",
"transcript": "NM_080631.4",
"protein_id": "NP_542198.2",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 829,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080631.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2369G>C",
"hgvs_p": "p.Arg790Pro",
"transcript": "ENST00000395969.6",
"protein_id": "ENSP00000379297.2",
"transcript_support_level": 5,
"aa_start": 790,
"aa_end": null,
"aa_length": 829,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395969.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2366G>C",
"hgvs_p": "p.Arg789Pro",
"transcript": "ENST00000862391.1",
"protein_id": "ENSP00000532450.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 828,
"cds_start": 2366,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862391.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2330G>C",
"hgvs_p": "p.Arg777Pro",
"transcript": "ENST00000862389.1",
"protein_id": "ENSP00000532448.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 816,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862389.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Arg772Pro",
"transcript": "ENST00000934107.1",
"protein_id": "ENSP00000604166.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 811,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934107.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2177G>C",
"hgvs_p": "p.Arg726Pro",
"transcript": "ENST00000862385.1",
"protein_id": "ENSP00000532444.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 765,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862385.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2171G>C",
"hgvs_p": "p.Arg724Pro",
"transcript": "ENST00000862387.1",
"protein_id": "ENSP00000532446.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 763,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862387.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.1289G>C",
"hgvs_p": "p.Arg430Pro",
"transcript": "XM_017011988.2",
"protein_id": "XP_016867477.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 469,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011988.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.903G>C",
"hgvs_p": null,
"transcript": "ENST00000482217.1",
"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": "retained_intron",
"feature": "ENST00000482217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.238G>C",
"hgvs_p": null,
"transcript": "ENST00000490924.1",
"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": "ENST00000490924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.2555G>C",
"hgvs_p": null,
"transcript": "XR_007060008.1",
"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": "XR_007060008.1"
}
],
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"dbsnp": "rs149584623",
"frequency_reference_population": 0.0000013903546,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000139035,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8326889872550964,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.578,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9262,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014396.4",
"gene_symbol": "VPS41",
"hgnc_id": 12713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2444G>C",
"hgvs_p": "p.Arg815Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}