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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: 2-106101117-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=106101117&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 106101117,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001253875.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "NM_001253875.2",
"protein_id": "NP_001240804.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 425,
"cds_start": 925,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283148.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253875.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "ENST00000283148.12",
"protein_id": "ENSP00000283148.7",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 425,
"cds_start": 925,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001253875.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283148.12"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "ENST00000409501.7",
"protein_id": "ENSP00000387019.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 420,
"cds_start": 910,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409501.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Asp136Asn",
"transcript": "ENST00000409032.5",
"protein_id": "ENSP00000387096.1",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 252,
"cds_start": 406,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409032.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Asp357Asn",
"transcript": "ENST00000903971.1",
"protein_id": "ENSP00000574030.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 473,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903971.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "NM_025076.5",
"protein_id": "NP_079352.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 420,
"cds_start": 910,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025076.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "ENST00000937935.1",
"protein_id": "ENSP00000607994.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 420,
"cds_start": 910,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937935.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Asp289Asn",
"transcript": "ENST00000903966.1",
"protein_id": "ENSP00000574025.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 405,
"cds_start": 865,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903966.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Asp284Asn",
"transcript": "ENST00000903963.1",
"protein_id": "ENSP00000574022.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 400,
"cds_start": 850,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903963.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Asp274Asn",
"transcript": "ENST00000903967.1",
"protein_id": "ENSP00000574026.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 390,
"cds_start": 820,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903967.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.805G>A",
"hgvs_p": "p.Asp269Asn",
"transcript": "ENST00000903962.1",
"protein_id": "ENSP00000574021.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 385,
"cds_start": 805,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903962.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "NM_001377504.1",
"protein_id": "NP_001364433.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 371,
"cds_start": 925,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377504.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "ENST00000903970.1",
"protein_id": "ENSP00000574029.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 371,
"cds_start": 925,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903970.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "NM_001377505.1",
"protein_id": "NP_001364434.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 366,
"cds_start": 910,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377505.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "ENST00000903964.1",
"protein_id": "ENSP00000574023.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 366,
"cds_start": 910,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903964.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Asp249Asn",
"transcript": "NM_001377506.1",
"protein_id": "NP_001364435.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 365,
"cds_start": 745,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377506.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "NM_001377507.1",
"protein_id": "NP_001364436.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 362,
"cds_start": 925,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377507.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Asp242Asn",
"transcript": "ENST00000903968.1",
"protein_id": "ENSP00000574027.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 358,
"cds_start": 724,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903968.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Asp304Asn",
"transcript": "NM_001377508.1",
"protein_id": "NP_001364437.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 357,
"cds_start": 910,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377508.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Asp196Asn",
"transcript": "NM_001377509.1",
"protein_id": "NP_001364438.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 312,
"cds_start": 586,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377509.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UXS1",
"gene_hgnc_id": 17729,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Asp153Asn",
"transcript": "ENST00000937938.1",
"protein_id": "ENSP00000607997.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 269,
"cds_start": 457,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937938.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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],
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"splice_prediction_selected": "Pathogenic",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -1,
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"pathogenic_score": 3,
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"PP3",
"BS2"
],
"verdict": "Likely_benign",
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"effects": [
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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
}