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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: 7-17796877-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=17796877&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SNX13",
"hgnc_id": 21335,
"hgvs_c": "c.2609G>C",
"hgvs_p": "p.Arg870Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001350862.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8599,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8413770198822021,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 2775,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_015132.5",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2576G>C",
"hgvs_p": "p.Arg859Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000428135.7",
"protein_coding": true,
"protein_id": "NP_055947.1",
"strand": false,
"transcript": "NM_015132.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 957,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 2775,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000428135.7",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2576G>C",
"hgvs_p": "p.Arg859Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015132.5",
"protein_coding": true,
"protein_id": "ENSP00000398789.2",
"strand": false,
"transcript": "ENST00000428135.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6817,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2609,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000611725.4",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2609G>C",
"hgvs_p": "p.Arg870Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479044.1",
"strand": false,
"transcript": "ENST00000611725.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000496855.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "n.920G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000496855.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6390,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2609,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001350862.2",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2609G>C",
"hgvs_p": "p.Arg870Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337791.1",
"strand": false,
"transcript": "NM_001350862.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6567,
"cdna_start": 2985,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2609,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000862559.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2609G>C",
"hgvs_p": "p.Arg870Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532618.1",
"strand": false,
"transcript": "ENST00000862559.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000959595.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2570G>C",
"hgvs_p": "p.Arg857Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629654.1",
"strand": false,
"transcript": "ENST00000959595.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6332,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2537,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000862561.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2537G>C",
"hgvs_p": "p.Arg846Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532620.1",
"strand": false,
"transcript": "ENST00000862561.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000959598.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2507G>C",
"hgvs_p": "p.Arg836Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629657.1",
"strand": false,
"transcript": "ENST00000959598.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 933,
"aa_ref": "R",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 2703,
"cds_end": null,
"cds_length": 2802,
"cds_start": 2504,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000959596.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2504G>C",
"hgvs_p": "p.Arg835Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629655.1",
"strand": false,
"transcript": "ENST00000959596.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 932,
"aa_ref": "R",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3595,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 2799,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000959599.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2501G>C",
"hgvs_p": "p.Arg834Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629658.1",
"strand": false,
"transcript": "ENST00000959599.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 2689,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2474,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000862563.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2474G>C",
"hgvs_p": "p.Arg825Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532622.1",
"strand": false,
"transcript": "ENST00000862563.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": 2677,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2471,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000862564.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2471G>C",
"hgvs_p": "p.Arg824Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532623.1",
"strand": false,
"transcript": "ENST00000862564.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 2652,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2468,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000939179.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2468G>C",
"hgvs_p": "p.Arg823Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609238.1",
"strand": false,
"transcript": "ENST00000939179.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 914,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6245,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000862560.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2447G>C",
"hgvs_p": "p.Arg816Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532619.1",
"strand": false,
"transcript": "ENST00000862560.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4080,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000959597.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2420G>C",
"hgvs_p": "p.Arg807Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629656.1",
"strand": false,
"transcript": "ENST00000959597.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 903,
"aa_ref": "R",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6201,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2414,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000862562.1",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2414G>C",
"hgvs_p": "p.Arg805Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532621.1",
"strand": false,
"transcript": "ENST00000862562.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 877,
"aa_ref": "R",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6350,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 2634,
"cds_start": 2336,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001350863.2",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Arg779Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337792.1",
"strand": false,
"transcript": "NM_001350863.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 855,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6424,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2270,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001350864.2",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.2270G>C",
"hgvs_p": "p.Arg757Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337793.1",
"strand": false,
"transcript": "NM_001350864.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001350866.2",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.1967G>C",
"hgvs_p": "p.Arg656Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337795.1",
"strand": false,
"transcript": "NM_001350866.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 2938,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001350867.2",
"gene_hgnc_id": 21335,
"gene_symbol": "SNX13",
"hgvs_c": "c.1967G>C",
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