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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: 11-63898673-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63898673&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MARK2",
"hgnc_id": 3332,
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001039469.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9991,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9751425981521606,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4547,
"cdna_start": 800,
"cds_end": null,
"cds_length": 2367,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001039469.3",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402010.8",
"protein_coding": true,
"protein_id": "NP_001034558.2",
"strand": true,
"transcript": "NM_001039469.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 788,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4547,
"cdna_start": 800,
"cds_end": null,
"cds_length": 2367,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000402010.8",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039469.3",
"protein_coding": true,
"protein_id": "ENSP00000385751.2",
"strand": true,
"transcript": "ENST00000402010.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 779,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 446,
"cds_end": null,
"cds_length": 2340,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000513765.7",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421075.3",
"strand": true,
"transcript": "ENST00000513765.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 763,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2292,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000425897.3",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415494.3",
"strand": true,
"transcript": "ENST00000425897.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 719,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2160,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000361128.9",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355091.5",
"strand": true,
"transcript": "ENST00000361128.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": 817,
"cds_end": null,
"cds_length": 2130,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000350490.11",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294247.9",
"strand": true,
"transcript": "ENST00000350490.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 691,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 322,
"cds_end": null,
"cds_length": 2076,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000408948.7",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386128.3",
"strand": true,
"transcript": "ENST00000408948.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 787,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 982,
"cds_end": null,
"cds_length": 2364,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906218.1",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576277.1",
"strand": true,
"transcript": "ENST00000906218.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 615,
"cds_end": null,
"cds_length": 2337,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000502399.7",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423452.3",
"strand": true,
"transcript": "ENST00000502399.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 788,
"cds_end": null,
"cds_length": 2319,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906219.1",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576278.1",
"strand": true,
"transcript": "ENST00000906219.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 764,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 800,
"cds_end": null,
"cds_length": 2295,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911905.1",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581964.1",
"strand": true,
"transcript": "ENST00000911905.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2238,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_017490.4",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_059672.2",
"strand": true,
"transcript": "NM_017490.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 767,
"cds_end": null,
"cds_length": 2238,
"cds_start": 304,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000509502.6",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423974.2",
"strand": true,
"transcript": "ENST00000509502.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 734,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 824,
"cds_end": null,
"cds_length": 2205,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911904.1",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581963.1",
"strand": true,
"transcript": "ENST00000911904.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 733,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 987,
"cds_end": null,
"cds_length": 2202,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906217.1",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576276.1",
"strand": true,
"transcript": "ENST00000906217.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4560,
"cdna_start": 982,
"cds_end": null,
"cds_length": 2199,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000377810.8",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367041.5",
"strand": true,
"transcript": "ENST00000377810.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2178,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906220.1",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576279.1",
"strand": true,
"transcript": "ENST00000906220.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 724,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 800,
"cds_end": null,
"cds_length": 2175,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004954.5",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004945.4",
"strand": true,
"transcript": "NM_004954.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 724,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2175,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000508192.5",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425765.1",
"strand": true,
"transcript": "ENST00000508192.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 719,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 800,
"cds_end": null,
"cds_length": 2160,
"cds_start": 403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001163296.2",
"gene_hgnc_id": 3332,
"gene_symbol": "MARK2",
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Gly135Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156768.1",
"strand": true,
"transcript": "NM_001163296.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 718,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 446,
"cds_end": null,
"cds_length": 2157,
"cds_start": 403,
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