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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: X-153786146-GGGCTACAGGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153786146&ref=GGGCTACAGGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153786146,
"ref": "GGGCTACAGGA",
"alt": "G",
"effect": "frameshift_variant,stop_lost",
"transcript": "NM_174869.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1080+56_1080+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "NM_004135.4",
"protein_id": "NP_004126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217901.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004135.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1080+56_1080+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000217901.10",
"protein_id": "ENSP00000217901.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004135.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217901.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.495+56_495+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000454076.5",
"protein_id": "ENSP00000400115.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454076.5"
},
{
"aa_ref": "LL*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1136_*2delTCCTGTAGCC",
"hgvs_p": "p.Leu379fs",
"transcript": "NM_174869.3",
"protein_id": "NP_777358.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 380,
"cds_start": 1136,
"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": "NM_174869.3"
},
{
"aa_ref": "LL*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1136_*2delTCCTGTAGCC",
"hgvs_p": "p.Leu379fs",
"transcript": "ENST00000370092.7",
"protein_id": "ENSP00000359110.3",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 380,
"cds_start": 1136,
"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": "ENST00000370092.7"
},
{
"aa_ref": "LL*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.962_*2delTCCTGTAGCC",
"hgvs_p": "p.Leu321fs",
"transcript": "ENST00000427365.6",
"protein_id": "ENSP00000408529.2",
"transcript_support_level": 5,
"aa_start": 321,
"aa_end": null,
"aa_length": 322,
"cds_start": 962,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427365.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1136_*2delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "NM_174869.3",
"protein_id": "NP_777358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"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": "NM_174869.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1136_*2delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000370092.7",
"protein_id": "ENSP00000359110.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"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": "ENST00000370092.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.*195_*204delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000370093.5",
"protein_id": "ENSP00000359111.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370093.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.962_*2delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000427365.6",
"protein_id": "ENSP00000408529.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427365.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1179+56_1179+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958656.1",
"protein_id": "ENSP00000628715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1116+56_1116+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958648.1",
"protein_id": "ENSP00000628707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": null,
"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": "ENST00000958648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1074+56_1074+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958650.1",
"protein_id": "ENSP00000628709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1068+56_1068+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000854367.1",
"protein_id": "ENSP00000524426.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854367.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1080+56_1080+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958651.1",
"protein_id": "ENSP00000628710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000958651.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1047+56_1047+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958653.1",
"protein_id": "ENSP00000628712.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958653.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1038+56_1038+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958649.1",
"protein_id": "ENSP00000628708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
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"cds_length": 1140,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958649.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.1026+56_1026+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000854366.1",
"protein_id": "ENSP00000524425.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000854366.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.933+56_933+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958655.1",
"protein_id": "ENSP00000628714.1",
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"biotype": "protein_coding",
"feature": "ENST00000958655.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
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"hgvs_c": "c.933+56_933+65delTCCTGTAGCC",
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"transcript": "ENST00000958652.1",
"protein_id": "ENSP00000628711.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958652.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.879+56_879+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000918597.1",
"protein_id": "ENSP00000588656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"hgvs_c": "c.237+56_237+65delTCCTGTAGCC",
"hgvs_p": null,
"transcript": "ENST00000958654.1",
"protein_id": "ENSP00000628713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958654.1"
}
],
"gene_symbol": "IDH3G",
"gene_hgnc_id": 5386,
"dbsnp": "rs781829485",
"frequency_reference_population": 0.000054132022,
"hom_count_reference_population": 21,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000542369,
"gnomad_genomes_af": 0.0000531218,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.75,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_174869.3",
"gene_symbol": "IDH3G",
"hgnc_id": 5386,
"effects": [
"frameshift_variant",
"stop_lost"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1136_*2delTCCTGTAGCC",
"hgvs_p": "p.Leu379fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}