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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: 10-87094414-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87094414&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87094414,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005271.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "NM_005271.5",
"protein_id": "NP_005262.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 558,
"cds_start": 356,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000277865.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005271.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000277865.5",
"protein_id": "ENSP00000277865.4",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 558,
"cds_start": 356,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277865.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000915201.1",
"protein_id": "ENSP00000585260.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 574,
"cds_start": 356,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915201.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898383.1",
"protein_id": "ENSP00000568442.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 571,
"cds_start": 356,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898383.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000944406.1",
"protein_id": "ENSP00000614465.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 549,
"cds_start": 356,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944406.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898388.1",
"protein_id": "ENSP00000568447.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 548,
"cds_start": 356,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898388.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898382.1",
"protein_id": "ENSP00000568441.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 537,
"cds_start": 356,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898382.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000684338.1",
"protein_id": "ENSP00000507457.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 532,
"cds_start": 356,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684338.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898387.1",
"protein_id": "ENSP00000568446.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 531,
"cds_start": 356,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898387.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000915200.1",
"protein_id": "ENSP00000585259.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 518,
"cds_start": 356,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915200.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898385.1",
"protein_id": "ENSP00000568444.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 512,
"cds_start": 356,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898385.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000915199.1",
"protein_id": "ENSP00000585258.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 512,
"cds_start": 356,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915199.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898386.1",
"protein_id": "ENSP00000568445.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 498,
"cds_start": 356,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898386.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898384.1",
"protein_id": "ENSP00000568443.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 491,
"cds_start": 356,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898384.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898390.1",
"protein_id": "ENSP00000568449.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 488,
"cds_start": 356,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898390.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000684201.1",
"protein_id": "ENSP00000507887.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 466,
"cds_start": 356,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684201.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000944407.1",
"protein_id": "ENSP00000614466.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 445,
"cds_start": 356,
"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": "ENST00000944407.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898392.1",
"protein_id": "ENSP00000568451.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 399,
"cds_start": 356,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898392.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898389.1",
"protein_id": "ENSP00000568448.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 367,
"cds_start": 356,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898389.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000898391.1",
"protein_id": "ENSP00000568450.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 286,
"cds_start": 356,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.-380G>A",
"hgvs_p": null,
"transcript": "ENST00000943977.1",
"protein_id": "ENSP00000614036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": null,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.-380G>A",
"hgvs_p": null,
"transcript": "ENST00000898041.1",
"protein_id": "ENSP00000568100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": null,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898041.1"
},
{
"aa_ref": null,
"aa_alt": null,
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}
],
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}