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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: 3-49684099-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49684099&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49684099,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000449682.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Arg703Cys",
"transcript": "NM_020998.4",
"protein_id": "NP_066278.3",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 725,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": "ENST00000449682.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Arg703Cys",
"transcript": "ENST00000449682.3",
"protein_id": "ENSP00000414287.2",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 725,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": "NM_020998.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.2143C>T",
"hgvs_p": "p.Arg715Cys",
"transcript": "NM_001393581.1",
"protein_id": "NP_001380510.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 737,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.2050C>T",
"hgvs_p": "p.Arg684Cys",
"transcript": "NM_001393582.1",
"protein_id": "NP_001380511.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 706,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.2017C>T",
"hgvs_p": "p.Arg673Cys",
"transcript": "NM_001393583.1",
"protein_id": "NP_001380512.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 695,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.1972C>T",
"hgvs_p": "p.Arg658Cys",
"transcript": "NM_001393584.1",
"protein_id": "NP_001380513.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 680,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.1807C>T",
"hgvs_p": "p.Arg603Cys",
"transcript": "NM_001393585.1",
"protein_id": "NP_001380514.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 625,
"cds_start": 1807,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000448220.5",
"protein_id": "ENSP00000394756.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 194,
"cds_start": 514,
"cds_end": null,
"cds_length": 585,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.2086C>T",
"hgvs_p": "p.Arg696Cys",
"transcript": "XM_017006460.3",
"protein_id": "XP_016861949.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 718,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "n.2162C>T",
"hgvs_p": null,
"transcript": "ENST00000479115.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "n.4029C>T",
"hgvs_p": null,
"transcript": "ENST00000488350.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "n.1883C>T",
"hgvs_p": null,
"transcript": "ENST00000492329.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "n.873C>T",
"hgvs_p": null,
"transcript": "ENST00000493836.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "n.2771C>T",
"hgvs_p": null,
"transcript": "NR_146060.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.*27C>T",
"hgvs_p": null,
"transcript": "XM_047448158.1",
"protein_id": "XP_047304114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": -4,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "c.*27C>T",
"hgvs_p": null,
"transcript": "XM_047448159.1",
"protein_id": "XP_047304115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.*757G>A",
"hgvs_p": null,
"transcript": "NM_001640.4",
"protein_id": "NP_001631.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": "ENST00000296456.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.*757G>A",
"hgvs_p": null,
"transcript": "ENST00000296456.10",
"protein_id": "ENSP00000296456.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": "NM_001640.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1",
"gene_hgnc_id": 7380,
"hgvs_c": "n.*226C>T",
"hgvs_p": null,
"transcript": "ENST00000484144.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.*757G>A",
"hgvs_p": null,
"transcript": "XM_011533658.4",
"protein_id": "XP_011531960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.*757G>A",
"hgvs_p": null,
"transcript": "XM_047448065.1",
"protein_id": "XP_047304021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.*757G>A",
"hgvs_p": null,
"transcript": "XM_017006285.2",
"protein_id": "XP_016861774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.*757G>A",
"hgvs_p": null,
"transcript": "XM_005265097.3",
"protein_id": "XP_005265154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
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{
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],
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "Unknown,AR",
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{
"score": -12,
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"BP4_Strong",
"BA1"
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"verdict": "Benign",
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}