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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: 16-69157168-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69157168&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69157168,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_032830.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "NM_032830.3",
"protein_id": "NP_116219.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 686,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314423.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032830.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000314423.12",
"protein_id": "ENSP00000327179.7",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 686,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032830.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314423.12"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1414C>T",
"hgvs_p": "p.Gln472*",
"transcript": "ENST00000562237.5",
"protein_id": "ENSP00000456709.1",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 700,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562237.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000960037.1",
"protein_id": "ENSP00000630096.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 723,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960037.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"transcript": "ENST00000916305.1",
"protein_id": "ENSP00000586364.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 694,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916305.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Gln464*",
"transcript": "ENST00000916297.1",
"protein_id": "ENSP00000586356.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 692,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916297.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000916296.1",
"protein_id": "ENSP00000586355.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 686,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916296.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000916307.1",
"protein_id": "ENSP00000586366.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 686,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916307.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000861702.1",
"protein_id": "ENSP00000531761.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 684,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861702.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000916306.1",
"protein_id": "ENSP00000586365.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 684,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916306.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Gln445*",
"transcript": "ENST00000861707.1",
"protein_id": "ENSP00000531766.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 673,
"cds_start": 1333,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861707.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Gln445*",
"transcript": "ENST00000916302.1",
"protein_id": "ENSP00000586361.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 673,
"cds_start": 1333,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916302.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000960038.1",
"protein_id": "ENSP00000630097.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 656,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960038.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000861705.1",
"protein_id": "ENSP00000531764.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 654,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861705.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000916299.1",
"protein_id": "ENSP00000586358.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 652,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916299.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000916298.1",
"protein_id": "ENSP00000586357.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 649,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916298.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Gln404*",
"transcript": "ENST00000916303.1",
"protein_id": "ENSP00000586362.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 632,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916303.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000563094.5",
"protein_id": "ENSP00000456622.1",
"transcript_support_level": 2,
"aa_start": 458,
"aa_end": null,
"aa_length": 625,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563094.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Gln394*",
"transcript": "ENST00000960039.1",
"protein_id": "ENSP00000630098.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 622,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960039.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Gln375*",
"transcript": "NM_001318391.2",
"protein_id": "NP_001305320.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 603,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318391.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Gln370*",
"transcript": "ENST00000861704.1",
"protein_id": "ENSP00000531763.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 598,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861704.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTP4",
"gene_hgnc_id": 1983,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000960040.1",
"protein_id": "ENSP00000630099.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 592,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960040.1"
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{
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{
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{
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{
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{
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{
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{
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{
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],
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"gene_symbol": "UTP4",
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"transcript": "ENST00000861706.1",
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],
"gene_symbol": "UTP4",
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"dbsnp": "rs1060499849",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.656,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_032830.3",
"gene_symbol": "UTP4",
"hgnc_id": 1983,
"effects": [
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],
"inheritance_mode": "AR",
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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
}