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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: 7-38726918-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=38726918&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 38726918,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014396.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"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.2475G>A",
"hgvs_p": "p.Met825Ile",
"transcript": "NM_014396.4",
"protein_id": "NP_055211.2",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 854,
"cds_start": 2475,
"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": "M",
"aa_alt": "I",
"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.2475G>A",
"hgvs_p": "p.Met825Ile",
"transcript": "ENST00000310301.9",
"protein_id": "ENSP00000309457.4",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 854,
"cds_start": 2475,
"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.*160G>A",
"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.*160G>A",
"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": "M",
"aa_alt": "I",
"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.2571G>A",
"hgvs_p": "p.Met857Ile",
"transcript": "ENST00000951460.1",
"protein_id": "ENSP00000621519.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 886,
"cds_start": 2571,
"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": "M",
"aa_alt": "I",
"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.2499G>A",
"hgvs_p": "p.Met833Ile",
"transcript": "ENST00000862388.1",
"protein_id": "ENSP00000532447.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 862,
"cds_start": 2499,
"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": "M",
"aa_alt": "I",
"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.2469G>A",
"hgvs_p": "p.Met823Ile",
"transcript": "ENST00000951459.1",
"protein_id": "ENSP00000621518.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 852,
"cds_start": 2469,
"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": "M",
"aa_alt": "I",
"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.2466G>A",
"hgvs_p": "p.Met822Ile",
"transcript": "ENST00000951462.1",
"protein_id": "ENSP00000621521.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 851,
"cds_start": 2466,
"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": "M",
"aa_alt": "I",
"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.2460G>A",
"hgvs_p": "p.Met820Ile",
"transcript": "ENST00000862386.1",
"protein_id": "ENSP00000532445.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 849,
"cds_start": 2460,
"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": "M",
"aa_alt": "I",
"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.2430G>A",
"hgvs_p": "p.Met810Ile",
"transcript": "ENST00000862390.1",
"protein_id": "ENSP00000532449.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 839,
"cds_start": 2430,
"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": "M",
"aa_alt": "I",
"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.2424G>A",
"hgvs_p": "p.Met808Ile",
"transcript": "ENST00000951461.1",
"protein_id": "ENSP00000621520.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 837,
"cds_start": 2424,
"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": "M",
"aa_alt": "I",
"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.2400G>A",
"hgvs_p": "p.Met800Ile",
"transcript": "NM_080631.4",
"protein_id": "NP_542198.2",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 829,
"cds_start": 2400,
"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": "M",
"aa_alt": "I",
"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.2400G>A",
"hgvs_p": "p.Met800Ile",
"transcript": "ENST00000395969.6",
"protein_id": "ENSP00000379297.2",
"transcript_support_level": 5,
"aa_start": 800,
"aa_end": null,
"aa_length": 829,
"cds_start": 2400,
"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": "M",
"aa_alt": "I",
"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.2397G>A",
"hgvs_p": "p.Met799Ile",
"transcript": "ENST00000862391.1",
"protein_id": "ENSP00000532450.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 828,
"cds_start": 2397,
"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": "M",
"aa_alt": "I",
"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.2361G>A",
"hgvs_p": "p.Met787Ile",
"transcript": "ENST00000862389.1",
"protein_id": "ENSP00000532448.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 816,
"cds_start": 2361,
"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": "M",
"aa_alt": "I",
"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.2346G>A",
"hgvs_p": "p.Met782Ile",
"transcript": "ENST00000934107.1",
"protein_id": "ENSP00000604166.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 811,
"cds_start": 2346,
"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": "M",
"aa_alt": "I",
"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.2208G>A",
"hgvs_p": "p.Met736Ile",
"transcript": "ENST00000862385.1",
"protein_id": "ENSP00000532444.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 765,
"cds_start": 2208,
"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": "M",
"aa_alt": "I",
"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.2202G>A",
"hgvs_p": "p.Met734Ile",
"transcript": "ENST00000862387.1",
"protein_id": "ENSP00000532446.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 763,
"cds_start": 2202,
"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": "M",
"aa_alt": "I",
"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.1320G>A",
"hgvs_p": "p.Met440Ile",
"transcript": "XM_017011988.2",
"protein_id": "XP_016867477.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 469,
"cds_start": 1320,
"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.934G>A",
"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.269G>A",
"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.2586G>A",
"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": "rs765607951",
"frequency_reference_population": 7.028701e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.0287e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05758824944496155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0716,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.203,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014396.4",
"gene_symbol": "VPS41",
"hgnc_id": 12713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2475G>A",
"hgvs_p": "p.Met825Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}