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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: 3-155481096-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155481096&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155481096,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130960.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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.4930A>G",
"hgvs_p": "p.Ile1644Val",
"transcript": "NM_014996.4",
"protein_id": "NP_055811.2",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5202,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "ENST00000460012.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014996.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4930A>G",
"hgvs_p": "p.Ile1644Val",
"transcript": "ENST00000460012.7",
"protein_id": "ENSP00000417502.2",
"transcript_support_level": 5,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5202,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "NM_014996.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460012.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4954A>G",
"hgvs_p": "p.Ile1652Val",
"transcript": "ENST00000340059.11",
"protein_id": "ENSP00000345988.7",
"transcript_support_level": 1,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5082,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340059.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4840A>G",
"hgvs_p": "p.Ile1614Val",
"transcript": "ENST00000334686.6",
"protein_id": "ENSP00000335469.6",
"transcript_support_level": 1,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4840,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 4914,
"cdna_end": null,
"cdna_length": 6128,
"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.*1973A>G",
"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": 6196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447496.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4990A>G",
"hgvs_p": "p.Ile1664Val",
"transcript": "ENST00000968450.1",
"protein_id": "ENSP00000638509.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968450.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4954A>G",
"hgvs_p": "p.Ile1652Val",
"transcript": "NM_001130960.2",
"protein_id": "NP_001124432.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5082,
"cdna_start": 5258,
"cdna_end": null,
"cdna_length": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130960.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4927A>G",
"hgvs_p": "p.Ile1643Val",
"transcript": "NM_001349251.2",
"protein_id": "NP_001336180.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4927,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 5199,
"cdna_end": null,
"cdna_length": 6414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349251.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4927A>G",
"hgvs_p": "p.Ile1643Val",
"transcript": "ENST00000897135.1",
"protein_id": "ENSP00000567194.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4927,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 5213,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897135.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4858A>G",
"hgvs_p": "p.Ile1620Val",
"transcript": "ENST00000924317.1",
"protein_id": "ENSP00000594376.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4858,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 5137,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924317.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4783A>G",
"hgvs_p": "p.Ile1595Val",
"transcript": "ENST00000924319.1",
"protein_id": "ENSP00000594378.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 1636,
"cds_start": 4783,
"cds_end": null,
"cds_length": 4911,
"cdna_start": 5021,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924319.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4768A>G",
"hgvs_p": "p.Ile1590Val",
"transcript": "ENST00000924320.1",
"protein_id": "ENSP00000594379.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1631,
"cds_start": 4768,
"cds_end": null,
"cds_length": 4896,
"cdna_start": 5006,
"cdna_end": null,
"cdna_length": 6221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924320.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4711A>G",
"hgvs_p": "p.Ile1571Val",
"transcript": "ENST00000924321.1",
"protein_id": "ENSP00000594380.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4711,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 4914,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924321.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4339A>G",
"hgvs_p": "p.Ile1447Val",
"transcript": "ENST00000924318.1",
"protein_id": "ENSP00000594377.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4339,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4599,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924318.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4990A>G",
"hgvs_p": "p.Ile1664Val",
"transcript": "XM_005247238.2",
"protein_id": "XP_005247295.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5262,
"cdna_end": null,
"cdna_length": 6477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247238.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4990A>G",
"hgvs_p": "p.Ile1664Val",
"transcript": "XM_011512560.4",
"protein_id": "XP_011510862.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 6450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512560.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4990A>G",
"hgvs_p": "p.Ile1664Val",
"transcript": "XM_011512561.3",
"protein_id": "XP_011510863.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5440,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512561.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4990A>G",
"hgvs_p": "p.Ile1664Val",
"transcript": "XM_011512562.4",
"protein_id": "XP_011510864.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5118,
"cdna_start": 5386,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512562.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4987A>G",
"hgvs_p": "p.Ile1663Val",
"transcript": "XM_017005923.2",
"protein_id": "XP_016861412.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5259,
"cdna_end": null,
"cdna_length": 6474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005923.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4918A>G",
"hgvs_p": "p.Ile1640Val",
"transcript": "XM_017005925.2",
"protein_id": "XP_016861414.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1681,
"cds_start": 4918,
"cds_end": null,
"cds_length": 5046,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005925.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4915A>G",
"hgvs_p": "p.Ile1639Val",
"transcript": "XM_047447745.1",
"protein_id": "XP_047303701.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4915,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 5187,
"cdna_end": null,
"cdna_length": 6402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447745.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.4900A>G",
"hgvs_p": "p.Ile1634Val",
"transcript": "XM_011512565.3",
"protein_id": "XP_011510867.1",
"transcript_support_level": null,
"aa_start": 1634,
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}