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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: 2-237994774-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237994774&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237994774,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_080678.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "NM_080678.3",
"protein_id": "NP_542409.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": "ENST00000272930.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080678.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000272930.9",
"protein_id": "ENSP00000272930.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": "NM_080678.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272930.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F-SCLY",
"gene_hgnc_id": 48339,
"hgvs_c": "n.179A>G",
"hgvs_p": null,
"transcript": "ENST00000449191.1",
"protein_id": "ENSP00000456827.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 951,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449191.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000888993.1",
"protein_id": "ENSP00000559052.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 200,
"cds_start": 179,
"cds_end": null,
"cds_length": 603,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888993.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000888995.1",
"protein_id": "ENSP00000559054.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 199,
"cds_start": 179,
"cds_end": null,
"cds_length": 600,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888995.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000946658.1",
"protein_id": "ENSP00000616717.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 196,
"cds_start": 179,
"cds_end": null,
"cds_length": 591,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946658.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000946660.1",
"protein_id": "ENSP00000616719.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 196,
"cds_start": 179,
"cds_end": null,
"cds_length": 591,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946660.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000888997.1",
"protein_id": "ENSP00000559056.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 195,
"cds_start": 179,
"cds_end": null,
"cds_length": 588,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888997.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000928516.1",
"protein_id": "ENSP00000598575.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 193,
"cds_start": 179,
"cds_end": null,
"cds_length": 582,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928516.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "NM_001278305.2",
"protein_id": "NP_001265234.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278305.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000612130.4",
"protein_id": "ENSP00000478474.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612130.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000888988.1",
"protein_id": "ENSP00000559047.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888988.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000888996.1",
"protein_id": "ENSP00000559055.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888996.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000888999.1",
"protein_id": "ENSP00000559058.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888999.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000928519.1",
"protein_id": "ENSP00000598578.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 185,
"cds_start": 179,
"cds_end": null,
"cds_length": 558,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928519.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000928512.1",
"protein_id": "ENSP00000598571.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 179,
"cds_end": null,
"cds_length": 555,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928512.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000928514.1",
"protein_id": "ENSP00000598573.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 179,
"cds_end": null,
"cds_length": 555,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928514.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000434655.5",
"protein_id": "ENSP00000406113.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 170,
"cds_start": 179,
"cds_end": null,
"cds_length": 515,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434655.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "NM_001278308.2",
"protein_id": "NP_001265237.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 164,
"cds_start": 179,
"cds_end": null,
"cds_length": 495,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278308.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000409633.5",
"protein_id": "ENSP00000387299.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 164,
"cds_start": 179,
"cds_end": null,
"cds_length": 495,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409633.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.107A>G",
"hgvs_p": "p.Asn36Ser",
"transcript": "NM_001278306.2",
"protein_id": "NP_001265235.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 107,
"cds_end": null,
"cds_length": 486,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278306.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.107A>G",
"hgvs_p": "p.Asn36Ser",
"transcript": "ENST00000409953.5",
"protein_id": "ENSP00000386680.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 107,
"cds_end": null,
"cds_length": 486,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}