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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: 1-45959448-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45959448&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45959448,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001324320.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "NM_015112.3",
"protein_id": "NP_055927.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1798,
"cds_start": 563,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": "ENST00000361297.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015112.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000361297.7",
"protein_id": "ENSP00000354671.2",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 1798,
"cds_start": 563,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": "NM_015112.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361297.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Arg253Pro",
"transcript": "ENST00000904602.1",
"protein_id": "ENSP00000574661.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1863,
"cds_start": 758,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904602.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "NM_001324320.2",
"protein_id": "NP_001311249.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1805,
"cds_start": 563,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324320.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000904601.1",
"protein_id": "ENSP00000574660.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1805,
"cds_start": 563,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904601.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000904603.1",
"protein_id": "ENSP00000574662.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1804,
"cds_start": 563,
"cds_end": null,
"cds_length": 5415,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904603.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Arg187Pro",
"transcript": "ENST00000904604.1",
"protein_id": "ENSP00000574663.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1804,
"cds_start": 560,
"cds_end": null,
"cds_length": 5415,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904604.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Arg187Pro",
"transcript": "ENST00000922953.1",
"protein_id": "ENSP00000593012.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1804,
"cds_start": 560,
"cds_end": null,
"cds_length": 5415,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922953.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "NM_001319245.2",
"protein_id": "NP_001306174.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1797,
"cds_start": 563,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 5734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319245.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Arg187Pro",
"transcript": "ENST00000904605.1",
"protein_id": "ENSP00000574664.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1797,
"cds_start": 560,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904605.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000922949.1",
"protein_id": "ENSP00000593008.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1797,
"cds_start": 563,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922949.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000922954.1",
"protein_id": "ENSP00000593013.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1777,
"cds_start": 563,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922954.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000922950.1",
"protein_id": "ENSP00000593009.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1764,
"cds_start": 563,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922950.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000922952.1",
"protein_id": "ENSP00000593011.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1764,
"cds_start": 563,
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"cdna_start": 879,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922952.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000922951.1",
"protein_id": "ENSP00000593010.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1728,
"cds_start": 563,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922951.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "ENST00000922955.1",
"protein_id": "ENSP00000593014.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1727,
"cds_start": 563,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 5509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922955.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.113G>C",
"hgvs_p": "p.Arg38Pro",
"transcript": "ENST00000674079.1",
"protein_id": "ENSP00000501318.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1655,
"cds_start": 113,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674079.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Pro",
"transcript": "NM_001324321.2",
"protein_id": "NP_001311250.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1644,
"cds_start": 80,
"cds_end": null,
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"cdna_start": 908,
"cdna_end": null,
"cdna_length": 5819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324321.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "ENST00000372008.6",
"protein_id": "ENSP00000361078.2",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 786,
"cds_start": 218,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372008.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Arg253Pro",
"transcript": "XM_011541059.3",
"protein_id": "XP_011539361.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1870,
"cds_start": 758,
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"cdna_start": 1042,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541059.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Arg253Pro",
"transcript": "XM_011541061.3",
"protein_id": "XP_011539363.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1869,
"cds_start": 758,
"cds_end": null,
"cds_length": 5610,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541061.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Arg253Pro",
"transcript": "XM_011541062.3",
"protein_id": "XP_011539364.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 1863,
"cds_start": 758,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 1042,
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{
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"PP3"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}