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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: 3-155481195-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155481195&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155481195,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130960.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4831C>A",
"hgvs_p": "p.Pro1611Thr",
"transcript": "NM_014996.4",
"protein_id": "NP_055811.2",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4831,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000460012.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014996.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4831C>A",
"hgvs_p": "p.Pro1611Thr",
"transcript": "ENST00000460012.7",
"protein_id": "ENSP00000417502.2",
"transcript_support_level": 5,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4831,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014996.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460012.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4855C>A",
"hgvs_p": "p.Pro1619Thr",
"transcript": "ENST00000340059.11",
"protein_id": "ENSP00000345988.7",
"transcript_support_level": 1,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4855,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340059.11"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4741C>A",
"hgvs_p": "p.Pro1581Thr",
"transcript": "ENST00000334686.6",
"protein_id": "ENSP00000335469.6",
"transcript_support_level": 1,
"aa_start": 1581,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4741,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334686.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.*1874C>A",
"hgvs_p": null,
"transcript": "ENST00000447496.6",
"protein_id": "ENSP00000402759.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447496.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4891C>A",
"hgvs_p": "p.Pro1631Thr",
"transcript": "ENST00000968450.1",
"protein_id": "ENSP00000638509.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968450.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4855C>A",
"hgvs_p": "p.Pro1619Thr",
"transcript": "NM_001130960.2",
"protein_id": "NP_001124432.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4855,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130960.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4828C>A",
"hgvs_p": "p.Pro1610Thr",
"transcript": "NM_001349251.2",
"protein_id": "NP_001336180.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4828,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349251.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4828C>A",
"hgvs_p": "p.Pro1610Thr",
"transcript": "ENST00000897135.1",
"protein_id": "ENSP00000567194.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4828,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897135.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4759C>A",
"hgvs_p": "p.Pro1587Thr",
"transcript": "ENST00000924317.1",
"protein_id": "ENSP00000594376.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4759,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924317.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4684C>A",
"hgvs_p": "p.Pro1562Thr",
"transcript": "ENST00000924319.1",
"protein_id": "ENSP00000594378.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1636,
"cds_start": 4684,
"cds_end": null,
"cds_length": 4911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924319.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4669C>A",
"hgvs_p": "p.Pro1557Thr",
"transcript": "ENST00000924320.1",
"protein_id": "ENSP00000594379.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1631,
"cds_start": 4669,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924320.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4612C>A",
"hgvs_p": "p.Pro1538Thr",
"transcript": "ENST00000924321.1",
"protein_id": "ENSP00000594380.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4612,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924321.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4240C>A",
"hgvs_p": "p.Pro1414Thr",
"transcript": "ENST00000924318.1",
"protein_id": "ENSP00000594377.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924318.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4891C>A",
"hgvs_p": "p.Pro1631Thr",
"transcript": "XM_005247238.2",
"protein_id": "XP_005247295.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247238.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4891C>A",
"hgvs_p": "p.Pro1631Thr",
"transcript": "XM_011512560.4",
"protein_id": "XP_011510862.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512560.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4891C>A",
"hgvs_p": "p.Pro1631Thr",
"transcript": "XM_011512561.3",
"protein_id": "XP_011510863.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512561.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4891C>A",
"hgvs_p": "p.Pro1631Thr",
"transcript": "XM_011512562.4",
"protein_id": "XP_011510864.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4891,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512562.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4888C>A",
"hgvs_p": "p.Pro1630Thr",
"transcript": "XM_017005923.2",
"protein_id": "XP_016861412.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4888,
"cds_end": null,
"cds_length": 5115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005923.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4819C>A",
"hgvs_p": "p.Pro1607Thr",
"transcript": "XM_017005925.2",
"protein_id": "XP_016861414.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1681,
"cds_start": 4819,
"cds_end": null,
"cds_length": 5046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005925.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4816C>A",
"hgvs_p": "p.Pro1606Thr",
"transcript": "XM_047447745.1",
"protein_id": "XP_047303701.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4816,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447745.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCH1",
"gene_hgnc_id": 29185,
"hgvs_c": "c.4801C>A",
"hgvs_p": "p.Pro1601Thr",
"transcript": "XM_011512565.3",
"protein_id": "XP_011510867.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4801,
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}