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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: 19-48799813-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48799813&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48799813,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001190.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "NM_001190.4",
"protein_id": "NP_001181.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 392,
"cds_start": 557,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316273.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "ENST00000316273.11",
"protein_id": "ENSP00000322991.5",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 392,
"cds_start": 557,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316273.11"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "ENST00000598162.5",
"protein_id": "ENSP00000470216.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 405,
"cds_start": 557,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598162.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Thr94Arg",
"transcript": "ENST00000599246.5",
"protein_id": "ENSP00000470680.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 313,
"cds_start": 281,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599246.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Thr94Arg",
"transcript": "ENST00000545387.6",
"protein_id": "ENSP00000440973.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 300,
"cds_start": 281,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545387.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.533C>G",
"hgvs_p": "p.Thr178Arg",
"transcript": "ENST00000593515.5",
"protein_id": "ENSP00000469139.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 445,
"cds_start": 533,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593515.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Thr214Arg",
"transcript": "ENST00000869279.1",
"protein_id": "ENSP00000539338.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 420,
"cds_start": 641,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869279.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Thr210Arg",
"transcript": "ENST00000971045.1",
"protein_id": "ENSP00000641104.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 416,
"cds_start": 629,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971045.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.569C>G",
"hgvs_p": "p.Thr190Arg",
"transcript": "ENST00000869277.1",
"protein_id": "ENSP00000539336.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 396,
"cds_start": 569,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869277.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.530C>G",
"hgvs_p": "p.Thr177Arg",
"transcript": "ENST00000869280.1",
"protein_id": "ENSP00000539339.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 383,
"cds_start": 530,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869280.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "ENST00000869276.1",
"protein_id": "ENSP00000539335.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 380,
"cds_start": 557,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869276.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "ENST00000869275.1",
"protein_id": "ENSP00000539334.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 374,
"cds_start": 557,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869275.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "ENST00000971046.1",
"protein_id": "ENSP00000641105.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 373,
"cds_start": 557,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971046.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Thr163Arg",
"transcript": "ENST00000917100.1",
"protein_id": "ENSP00000587159.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 369,
"cds_start": 488,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917100.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Thr94Arg",
"transcript": "ENST00000869281.1",
"protein_id": "ENSP00000539340.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 361,
"cds_start": 281,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869281.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Thr146Arg",
"transcript": "NM_001284325.2",
"protein_id": "NP_001271254.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 352,
"cds_start": 437,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284325.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Thr146Arg",
"transcript": "ENST00000402551.5",
"protein_id": "ENSP00000385161.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 352,
"cds_start": 437,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402551.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Thr146Arg",
"transcript": "ENST00000597011.5",
"protein_id": "ENSP00000469651.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 352,
"cds_start": 437,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597011.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Thr186Arg",
"transcript": "ENST00000917097.1",
"protein_id": "ENSP00000587156.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 343,
"cds_start": 557,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917097.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.356C>G",
"hgvs_p": "p.Thr119Arg",
"transcript": "ENST00000869278.1",
"protein_id": "ENSP00000539337.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 325,
"cds_start": 356,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869278.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.356C>G",
"hgvs_p": "p.Thr119Arg",
"transcript": "ENST00000917098.1",
"protein_id": "ENSP00000587157.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 307,
"cds_start": 356,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917098.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Thr94Arg",
"transcript": "NM_001164773.2",
"protein_id": "NP_001158245.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 300,
"cds_start": 281,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164773.2"
},
{
"aa_ref": "T",
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{
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{
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{
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{
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{
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"non_coding_transcript_exon_variant"
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"biotype": "retained_intron",
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],
"gene_symbol": "BCAT2",
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"dbsnp": "rs11548193",
"frequency_reference_population": 0.19166489,
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"gnomad_exomes_af": 0.196998,
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"computational_score_selected": 0.005737602710723877,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.376,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001190.4",
"gene_symbol": "BCAT2",
"hgnc_id": 977,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.557C>G",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}