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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: 5-94710851-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=94710851&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 94710851,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000515393.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2797T>C",
"hgvs_p": "p.Cys933Arg",
"transcript": "NM_024717.7",
"protein_id": "NP_078993.4",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 999,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": "ENST00000515393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2797T>C",
"hgvs_p": "p.Cys933Arg",
"transcript": "ENST00000515393.6",
"protein_id": "ENSP00000424126.1",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 999,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": "NM_024717.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2134T>C",
"hgvs_p": "p.Cys712Arg",
"transcript": "ENST00000312216.12",
"protein_id": "ENSP00000308957.8",
"transcript_support_level": 1,
"aa_start": 712,
"aa_end": null,
"aa_length": 778,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2719T>C",
"hgvs_p": "p.Cys907Arg",
"transcript": "NM_001393535.1",
"protein_id": "NP_001380464.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 973,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 7247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2659T>C",
"hgvs_p": "p.Cys887Arg",
"transcript": "NM_001393536.1",
"protein_id": "NP_001380465.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 953,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 7187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2620T>C",
"hgvs_p": "p.Cys874Arg",
"transcript": "NM_001393537.1",
"protein_id": "NP_001380466.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 940,
"cds_start": 2620,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 7148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2134T>C",
"hgvs_p": "p.Cys712Arg",
"transcript": "NM_001002796.5",
"protein_id": "NP_001002796.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 778,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2134T>C",
"hgvs_p": "p.Cys712Arg",
"transcript": "NM_001393538.1",
"protein_id": "NP_001380467.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 777,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2056T>C",
"hgvs_p": "p.Cys686Arg",
"transcript": "NM_001393539.1",
"protein_id": "NP_001380468.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 752,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 6228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2014T>C",
"hgvs_p": "p.Cys672Arg",
"transcript": "NM_001393540.1",
"protein_id": "NP_001380469.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 738,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.2002T>C",
"hgvs_p": "p.Cys668Arg",
"transcript": "NM_001393541.1",
"protein_id": "NP_001380470.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 734,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1996T>C",
"hgvs_p": "p.Cys666Arg",
"transcript": "NM_001393542.1",
"protein_id": "NP_001380471.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 732,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1996T>C",
"hgvs_p": "p.Cys666Arg",
"transcript": "NM_001393543.1",
"protein_id": "NP_001380472.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 731,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1957T>C",
"hgvs_p": "p.Cys653Arg",
"transcript": "NM_001393544.1",
"protein_id": "NP_001380473.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 719,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1951T>C",
"hgvs_p": "p.Cys651Arg",
"transcript": "NM_001393545.1",
"protein_id": "NP_001380474.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 717,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1915T>C",
"hgvs_p": "p.Cys639Arg",
"transcript": "NM_001393546.1",
"protein_id": "NP_001380475.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 705,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1897T>C",
"hgvs_p": "p.Cys633Arg",
"transcript": "NM_001393547.1",
"protein_id": "NP_001380476.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 699,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1876T>C",
"hgvs_p": "p.Cys626Arg",
"transcript": "NM_001297777.3",
"protein_id": "NP_001284706.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 692,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1876T>C",
"hgvs_p": "p.Cys626Arg",
"transcript": "ENST00000429576.6",
"protein_id": "ENSP00000391639.2",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 692,
"cds_start": 1876,
"cds_end": null,
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"cdna_start": 2039,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1957T>C",
"hgvs_p": "p.Cys653Arg",
"transcript": "ENST00000508509.5",
"protein_id": "ENSP00000423410.1",
"transcript_support_level": 5,
"aa_start": 653,
"aa_end": null,
"aa_length": 682,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2051,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1876T>C",
"hgvs_p": "p.Cys626Arg",
"transcript": "NM_001393548.1",
"protein_id": "NP_001380477.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 649,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCTP1",
"gene_hgnc_id": 26183,
"hgvs_c": "c.1345T>C",
"hgvs_p": "p.Cys449Arg",
"transcript": "ENST00000505078.5",
"protein_id": "ENSP00000426417.1",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 515,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
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],
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"acmg_classification": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
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{
"score": 2,
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],
"verdict": "Uncertain_significance",
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],
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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
}