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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: 7-4791237-A-AGAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=4791237&ref=A&alt=AGAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 4791237,
"ref": "A",
"alt": "AGAT",
"effect": "conservative_inframe_insertion",
"transcript": "NM_014855.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2278_2280dupATG",
"hgvs_p": "p.Met760dup",
"transcript": "NM_014855.3",
"protein_id": "NP_055670.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 807,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": "ENST00000649063.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014855.3"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2278_2280dupATG",
"hgvs_p": "p.Met760dup",
"transcript": "ENST00000649063.2",
"protein_id": "ENSP00000497815.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 807,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": "NM_014855.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649063.2"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2353_2355dupATG",
"hgvs_p": "p.Met785dup",
"transcript": "ENST00000865634.1",
"protein_id": "ENSP00000535693.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 832,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865634.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2347_2349dupATG",
"hgvs_p": "p.Met783dup",
"transcript": "ENST00000865636.1",
"protein_id": "ENSP00000535695.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 830,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865636.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2320_2322dupATG",
"hgvs_p": "p.Met774dup",
"transcript": "ENST00000963395.1",
"protein_id": "ENSP00000633454.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 821,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963395.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2305_2307dupATG",
"hgvs_p": "p.Met769dup",
"transcript": "ENST00000963389.1",
"protein_id": "ENSP00000633448.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 816,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963389.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2299_2301dupATG",
"hgvs_p": "p.Met767dup",
"transcript": "ENST00000963390.1",
"protein_id": "ENSP00000633449.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 814,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963390.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2296_2298dupATG",
"hgvs_p": "p.Met766dup",
"transcript": "ENST00000963393.1",
"protein_id": "ENSP00000633452.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 813,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963393.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2275_2277dupATG",
"hgvs_p": "p.Met759dup",
"transcript": "ENST00000963396.1",
"protein_id": "ENSP00000633455.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 806,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963396.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2233_2235dupATG",
"hgvs_p": "p.Met745dup",
"transcript": "ENST00000913390.1",
"protein_id": "ENSP00000583449.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 792,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913390.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2230_2232dupATG",
"hgvs_p": "p.Met744dup",
"transcript": "ENST00000963391.1",
"protein_id": "ENSP00000633450.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 791,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963391.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2137_2139dupATG",
"hgvs_p": "p.Met713dup",
"transcript": "ENST00000865635.1",
"protein_id": "ENSP00000535694.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 760,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865635.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2023_2025dupATG",
"hgvs_p": "p.Met675dup",
"transcript": "ENST00000963392.1",
"protein_id": "ENSP00000633451.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 722,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963392.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1930_1932dupATG",
"hgvs_p": "p.Met644dup",
"transcript": "ENST00000865637.1",
"protein_id": "ENSP00000535696.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 691,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865637.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1810_1812dupATG",
"hgvs_p": "p.Met604dup",
"transcript": "NM_001364858.1",
"protein_id": "NP_001351787.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 651,
"cds_start": 1813,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364858.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1333_1335dupATG",
"hgvs_p": "p.Met445dup",
"transcript": "ENST00000963394.1",
"protein_id": "ENSP00000633453.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 492,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963394.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.808_810dupATG",
"hgvs_p": "p.Met270dup",
"transcript": "ENST00000650581.1",
"protein_id": "ENSP00000497156.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 317,
"cds_start": 811,
"cds_end": null,
"cds_length": 954,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650581.1"
},
{
"aa_ref": "P",
"aa_alt": "MP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1942_1944dupATG",
"hgvs_p": "p.Met648dup",
"transcript": "XM_047421098.1",
"protein_id": "XP_047277054.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 695,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421098.1"
},
{
"aa_ref": "A",
"aa_alt": "DA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.428_430dupATG",
"hgvs_p": "p.Asp143dup",
"transcript": "ENST00000648237.1",
"protein_id": "ENSP00000497377.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 144,
"cds_start": 431,
"cds_end": null,
"cds_length": 435,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.1826_1828dupATG",
"hgvs_p": null,
"transcript": "ENST00000469614.1",
"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": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.2565_2567dupATG",
"hgvs_p": null,
"transcript": "ENST00000477680.6",
"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": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
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],
"gene_symbol": "AP5Z1",
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"dbsnp": "rs1554259059",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.155,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
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"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014855.3",
"gene_symbol": "AP5Z1",
"hgnc_id": 22197,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}