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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: 7-4790865-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=4790865&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 4790865,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014855.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"transcript": "NM_014855.3",
"protein_id": "NP_055670.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 807,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649063.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014855.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2131C>G",
"hgvs_p": "p.Arg711Gly",
"transcript": "ENST00000649063.2",
"protein_id": "ENSP00000497815.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 807,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014855.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649063.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2206C>G",
"hgvs_p": "p.Arg736Gly",
"transcript": "ENST00000865634.1",
"protein_id": "ENSP00000535693.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 832,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865634.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Arg734Gly",
"transcript": "ENST00000865636.1",
"protein_id": "ENSP00000535695.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 830,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865636.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2173C>G",
"hgvs_p": "p.Arg725Gly",
"transcript": "ENST00000963395.1",
"protein_id": "ENSP00000633454.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 821,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963395.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2158C>G",
"hgvs_p": "p.Arg720Gly",
"transcript": "ENST00000963389.1",
"protein_id": "ENSP00000633448.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 816,
"cds_start": 2158,
"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": "ENST00000963389.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2152C>G",
"hgvs_p": "p.Arg718Gly",
"transcript": "ENST00000963390.1",
"protein_id": "ENSP00000633449.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 814,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963390.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2149C>G",
"hgvs_p": "p.Arg717Gly",
"transcript": "ENST00000963393.1",
"protein_id": "ENSP00000633452.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 813,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963393.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2128C>G",
"hgvs_p": "p.Arg710Gly",
"transcript": "ENST00000963396.1",
"protein_id": "ENSP00000633455.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 806,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963396.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2086C>G",
"hgvs_p": "p.Arg696Gly",
"transcript": "ENST00000913390.1",
"protein_id": "ENSP00000583449.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 792,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913390.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "ENST00000963391.1",
"protein_id": "ENSP00000633450.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 791,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963391.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1990C>G",
"hgvs_p": "p.Arg664Gly",
"transcript": "ENST00000865635.1",
"protein_id": "ENSP00000535694.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 760,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865635.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1876C>G",
"hgvs_p": "p.Arg626Gly",
"transcript": "ENST00000963392.1",
"protein_id": "ENSP00000633451.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 722,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963392.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1663C>G",
"hgvs_p": "p.Arg555Gly",
"transcript": "NM_001364858.1",
"protein_id": "NP_001351787.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364858.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1186C>G",
"hgvs_p": "p.Arg396Gly",
"transcript": "ENST00000963394.1",
"protein_id": "ENSP00000633453.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 492,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963394.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.661C>G",
"hgvs_p": "p.Arg221Gly",
"transcript": "ENST00000650581.1",
"protein_id": "ENSP00000497156.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 317,
"cds_start": 661,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650581.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Pro94Arg",
"transcript": "ENST00000648237.1",
"protein_id": "ENSP00000497377.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 144,
"cds_start": 281,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648237.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Arg599Gly",
"transcript": "XM_047421098.1",
"protein_id": "XP_047277054.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 695,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "c.1806-250C>G",
"hgvs_p": null,
"transcript": "ENST00000865637.1",
"protein_id": "ENSP00000535696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.1679C>G",
"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": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.2418C>G",
"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": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP5Z1",
"gene_hgnc_id": 22197,
"hgvs_c": "n.282C>G",
"hgvs_p": null,
"transcript": "ENST00000490487.1",
"protein_id": null,
"transcript_support_level": 3,
"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,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.55,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "NM_014855.3",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 48,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:9",
"phenotype_combined": "Hereditary spastic paraplegia 48|not provided|Hereditary spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}