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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: 1-108896993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108896993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 108896993,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000264126.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "NM_013296.5",
"protein_id": "NP_037428.3",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "ENST00000264126.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000264126.9",
"protein_id": "ENSP00000264126.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "NM_013296.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Ser79Ser",
"transcript": "ENST00000674914.1",
"protein_id": "ENSP00000501579.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 701,
"cds_start": 237,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Ser79Ser",
"transcript": "ENST00000675087.1",
"protein_id": "ENSP00000502020.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 701,
"cds_start": 237,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "NM_001321038.2",
"protein_id": "NP_001307967.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "NM_001321039.3",
"protein_id": "NP_001307968.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000406462.6",
"protein_id": "ENSP00000385510.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000446797.2",
"protein_id": "ENSP00000392138.2",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000642355.1",
"protein_id": "ENSP00000496104.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000645164.2",
"protein_id": "ENSP00000496756.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000676184.1",
"protein_id": "ENSP00000502178.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000441735.2",
"protein_id": "ENSP00000390629.2",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 627,
"cds_start": 186,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000675086.1",
"protein_id": "ENSP00000502476.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 625,
"cds_start": 186,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Ser43Ser",
"transcript": "ENST00000674700.1",
"protein_id": "ENSP00000501743.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 519,
"cds_start": 129,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000435987.5",
"protein_id": "ENSP00000408664.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 212,
"cds_start": 186,
"cds_end": null,
"cds_length": 640,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000643094.1",
"protein_id": "ENSP00000495317.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 92,
"cds_start": 186,
"cds_end": null,
"cds_length": 279,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "ENST00000435475.5",
"protein_id": "ENSP00000401948.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 74,
"cds_start": 186,
"cds_end": null,
"cds_length": 225,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "XM_011541302.4",
"protein_id": "XP_011539604.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "XM_017001097.3",
"protein_id": "XP_016856586.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
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"cdna_start": 828,
"cdna_end": null,
"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "XM_017001098.3",
"protein_id": "XP_016856587.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "XM_047418723.1",
"protein_id": "XP_047274679.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ser62Ser",
"transcript": "XM_047418724.1",
"protein_id": "XP_047274680.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 684,
"cds_start": 186,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Ser43Ser",
"transcript": "XM_006710589.4",
"protein_id": "XP_006710652.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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{
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"criteria": [
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"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000264126.9",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -7,
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"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357393.6",
"gene_symbol": "AKNAD1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1-47417G>A",
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{
"score": -7,
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"criteria": [
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"BP6",
"BS2"
],
"verdict": "Benign",
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],
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}
],
"clinvar_disease": "Chudley-McCullough syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:1",
"phenotype_combined": "not specified|Chudley-McCullough syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}