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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: 7-38726254-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=38726254&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 38726254,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014396.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2557A>G",
"hgvs_p": "p.Lys853Glu",
"transcript": "NM_014396.4",
"protein_id": "NP_055211.2",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 854,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 5854,
"mane_select": "ENST00000310301.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014396.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2557A>G",
"hgvs_p": "p.Lys853Glu",
"transcript": "ENST00000310301.9",
"protein_id": "ENSP00000309457.4",
"transcript_support_level": 1,
"aa_start": 853,
"aa_end": null,
"aa_length": 854,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 5854,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.*242A>G",
"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": 711,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.*242A>G",
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448833.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2653A>G",
"hgvs_p": "p.Lys885Glu",
"transcript": "ENST00000951460.1",
"protein_id": "ENSP00000621519.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 886,
"cds_start": 2653,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951460.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2581A>G",
"hgvs_p": "p.Lys861Glu",
"transcript": "ENST00000862388.1",
"protein_id": "ENSP00000532447.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 862,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862388.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2551A>G",
"hgvs_p": "p.Lys851Glu",
"transcript": "ENST00000951459.1",
"protein_id": "ENSP00000621518.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 852,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 4209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951459.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2548A>G",
"hgvs_p": "p.Lys850Glu",
"transcript": "ENST00000951462.1",
"protein_id": "ENSP00000621521.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 851,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951462.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2542A>G",
"hgvs_p": "p.Lys848Glu",
"transcript": "ENST00000862386.1",
"protein_id": "ENSP00000532445.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 849,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862386.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2512A>G",
"hgvs_p": "p.Lys838Glu",
"transcript": "ENST00000862390.1",
"protein_id": "ENSP00000532449.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 839,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862390.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2506A>G",
"hgvs_p": "p.Lys836Glu",
"transcript": "ENST00000951461.1",
"protein_id": "ENSP00000621520.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 837,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951461.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Lys828Glu",
"transcript": "NM_080631.4",
"protein_id": "NP_542198.2",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 829,
"cds_start": 2482,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080631.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Lys828Glu",
"transcript": "ENST00000395969.6",
"protein_id": "ENSP00000379297.2",
"transcript_support_level": 5,
"aa_start": 828,
"aa_end": null,
"aa_length": 829,
"cds_start": 2482,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395969.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2479A>G",
"hgvs_p": "p.Lys827Glu",
"transcript": "ENST00000862391.1",
"protein_id": "ENSP00000532450.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 828,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862391.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2443A>G",
"hgvs_p": "p.Lys815Glu",
"transcript": "ENST00000862389.1",
"protein_id": "ENSP00000532448.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 816,
"cds_start": 2443,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862389.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2428A>G",
"hgvs_p": "p.Lys810Glu",
"transcript": "ENST00000934107.1",
"protein_id": "ENSP00000604166.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 811,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934107.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2290A>G",
"hgvs_p": "p.Lys764Glu",
"transcript": "ENST00000862385.1",
"protein_id": "ENSP00000532444.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 765,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862385.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.2284A>G",
"hgvs_p": "p.Lys762Glu",
"transcript": "ENST00000862387.1",
"protein_id": "ENSP00000532446.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 763,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862387.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "c.1402A>G",
"hgvs_p": "p.Lys468Glu",
"transcript": "XM_017011988.2",
"protein_id": "XP_016867477.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 469,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 4802,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.351A>G",
"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": 496,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490924.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"hgvs_c": "n.*65A>G",
"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": 951,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482217.1"
}
],
"gene_symbol": "VPS41",
"gene_hgnc_id": 12713,
"dbsnp": "rs201021270",
"frequency_reference_population": 0.00000124343,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.86568e-7,
"gnomad_genomes_af": 0.00000658181,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1025589108467102,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.1858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.384,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014396.4",
"gene_symbol": "VPS41",
"hgnc_id": 12713,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2557A>G",
"hgvs_p": "p.Lys853Glu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}