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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: 3-155481486-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155481486&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155481486,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130960.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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.4540G>A",
"hgvs_p": "p.Gly1514Ser",
"transcript": "NM_014996.4",
"protein_id": "NP_055811.2",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4540,
"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": "G",
"aa_alt": "S",
"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.4540G>A",
"hgvs_p": "p.Gly1514Ser",
"transcript": "ENST00000460012.7",
"protein_id": "ENSP00000417502.2",
"transcript_support_level": 5,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4540,
"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": "G",
"aa_alt": "S",
"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.4564G>A",
"hgvs_p": "p.Gly1522Ser",
"transcript": "ENST00000340059.11",
"protein_id": "ENSP00000345988.7",
"transcript_support_level": 1,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4564,
"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": "G",
"aa_alt": "S",
"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.4450G>A",
"hgvs_p": "p.Gly1484Ser",
"transcript": "ENST00000334686.6",
"protein_id": "ENSP00000335469.6",
"transcript_support_level": 1,
"aa_start": 1484,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4450,
"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.*1583G>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": "G",
"aa_alt": "S",
"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.4600G>A",
"hgvs_p": "p.Gly1534Ser",
"transcript": "ENST00000968450.1",
"protein_id": "ENSP00000638509.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4600,
"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": "G",
"aa_alt": "S",
"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.4564G>A",
"hgvs_p": "p.Gly1522Ser",
"transcript": "NM_001130960.2",
"protein_id": "NP_001124432.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1693,
"cds_start": 4564,
"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": "G",
"aa_alt": "S",
"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.4537G>A",
"hgvs_p": "p.Gly1513Ser",
"transcript": "NM_001349251.2",
"protein_id": "NP_001336180.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4537,
"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": "G",
"aa_alt": "S",
"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.4537G>A",
"hgvs_p": "p.Gly1513Ser",
"transcript": "ENST00000897135.1",
"protein_id": "ENSP00000567194.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4537,
"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": "G",
"aa_alt": "S",
"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.4468G>A",
"hgvs_p": "p.Gly1490Ser",
"transcript": "ENST00000924317.1",
"protein_id": "ENSP00000594376.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4468,
"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": "G",
"aa_alt": "S",
"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.4393G>A",
"hgvs_p": "p.Gly1465Ser",
"transcript": "ENST00000924319.1",
"protein_id": "ENSP00000594378.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1636,
"cds_start": 4393,
"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": "G",
"aa_alt": "S",
"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.4378G>A",
"hgvs_p": "p.Gly1460Ser",
"transcript": "ENST00000924320.1",
"protein_id": "ENSP00000594379.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1631,
"cds_start": 4378,
"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": "G",
"aa_alt": "S",
"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.4321G>A",
"hgvs_p": "p.Gly1441Ser",
"transcript": "ENST00000924321.1",
"protein_id": "ENSP00000594380.1",
"transcript_support_level": null,
"aa_start": 1441,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4321,
"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": "G",
"aa_alt": "S",
"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.3949G>A",
"hgvs_p": "p.Gly1317Ser",
"transcript": "ENST00000924318.1",
"protein_id": "ENSP00000594377.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3949,
"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": "G",
"aa_alt": "S",
"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.4600G>A",
"hgvs_p": "p.Gly1534Ser",
"transcript": "XM_005247238.2",
"protein_id": "XP_005247295.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4600,
"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": "G",
"aa_alt": "S",
"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.4600G>A",
"hgvs_p": "p.Gly1534Ser",
"transcript": "XM_011512560.4",
"protein_id": "XP_011510862.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4600,
"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": "G",
"aa_alt": "S",
"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.4600G>A",
"hgvs_p": "p.Gly1534Ser",
"transcript": "XM_011512561.3",
"protein_id": "XP_011510863.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4600,
"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": "G",
"aa_alt": "S",
"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.4600G>A",
"hgvs_p": "p.Gly1534Ser",
"transcript": "XM_011512562.4",
"protein_id": "XP_011510864.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4600,
"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_011512562.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.4597G>A",
"hgvs_p": "p.Gly1533Ser",
"transcript": "XM_017005923.2",
"protein_id": "XP_016861412.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4597,
"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": "G",
"aa_alt": "S",
"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.4528G>A",
"hgvs_p": "p.Gly1510Ser",
"transcript": "XM_017005925.2",
"protein_id": "XP_016861414.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1681,
"cds_start": 4528,
"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": "G",
"aa_alt": "S",
"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.4525G>A",
"hgvs_p": "p.Gly1509Ser",
"transcript": "XM_047447745.1",
"protein_id": "XP_047303701.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4525,
"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": "G",
"aa_alt": "S",
"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.4510G>A",
"hgvs_p": "p.Gly1504Ser",
"transcript": "XM_011512565.3",
"protein_id": "XP_011510867.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4510,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
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],
"gene_symbol": "PLCH1",
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"dbsnp": "rs1417236936",
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"gnomad_exomes_af": 6.84053e-7,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001130960.2",
"gene_symbol": "PLCH1",
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"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
}