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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: 15-90904337-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90904337&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90904337,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001320977.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "NM_006122.4",
"protein_id": "NP_006113.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1150,
"cds_start": 130,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000559717.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006122.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000559717.6",
"protein_id": "ENSP00000452948.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 1150,
"cds_start": 130,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006122.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559717.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000360468.7",
"protein_id": "ENSP00000353655.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 1150,
"cds_start": 130,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360468.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "n.130C>G",
"hgvs_p": null,
"transcript": "ENST00000558161.5",
"protein_id": "ENSP00000452631.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558161.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "n.492C>G",
"hgvs_p": null,
"transcript": "ENST00000560192.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "n.130C>G",
"hgvs_p": null,
"transcript": "ENST00000560451.6",
"protein_id": "ENSP00000453999.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560451.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "NM_001320977.2",
"protein_id": "NP_001307906.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1175,
"cds_start": 130,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320977.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000855659.1",
"protein_id": "ENSP00000525718.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1156,
"cds_start": 130,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855659.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000855658.1",
"protein_id": "ENSP00000525717.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1139,
"cds_start": 130,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855658.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000559999.5",
"protein_id": "ENSP00000453078.1",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 119,
"cds_start": 130,
"cds_end": null,
"cds_length": 361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559999.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000559965.5",
"protein_id": "ENSP00000453956.1",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 75,
"cds_start": 130,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559965.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000558290.5",
"protein_id": "ENSP00000453740.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 71,
"cds_start": 130,
"cds_end": null,
"cds_length": 218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558290.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000558853.5",
"protein_id": "ENSP00000452691.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 49,
"cds_start": 130,
"cds_end": null,
"cds_length": 152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558853.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_005254910.4",
"protein_id": "XP_005254967.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1175,
"cds_start": 130,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254910.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_017022184.2",
"protein_id": "XP_016877673.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1175,
"cds_start": 130,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022184.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_024449920.2",
"protein_id": "XP_024305688.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1175,
"cds_start": 130,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449920.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_024449921.2",
"protein_id": "XP_024305689.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1175,
"cds_start": 130,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449921.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_047432507.1",
"protein_id": "XP_047288463.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1175,
"cds_start": 130,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432507.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_017022185.2",
"protein_id": "XP_016877674.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1150,
"cds_start": 130,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022185.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_024449922.2",
"protein_id": "XP_024305690.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1150,
"cds_start": 130,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449922.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
"gene_hgnc_id": 6825,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_024449923.2",
"protein_id": "XP_024305691.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1150,
"cds_start": 130,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449923.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2A2",
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{
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],
"gene_symbol": "MAN2A2",
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"dbsnp": "rs776852590",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.3803422749042511,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.33399999141693115,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320977.2",
"gene_symbol": "MAN2A2",
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"effects": [
"missense_variant",
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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
}