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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: 10-86692068-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86692068&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86692068,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000443292.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "NM_001368067.1",
"protein_id": "NP_001354996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": "ENST00000263066.11",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "ENST00000263066.11",
"protein_id": "ENSP00000263066.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": "NM_001368067.1",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289258",
"gene_hgnc_id": null,
"hgvs_c": "c.2368+3G>A",
"hgvs_p": null,
"transcript": "ENST00000443292.2",
"protein_id": "ENSP00000393132.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1063+3G>A",
"hgvs_p": null,
"transcript": "ENST00000372056.8",
"protein_id": "ENSP00000361126.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": -4,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "ENST00000623007.3",
"protein_id": "ENSP00000485389.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "ENST00000372066.8",
"protein_id": "ENSP00000361136.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "n.11G>A",
"hgvs_p": null,
"transcript": "ENST00000687154.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1063+3G>A",
"hgvs_p": null,
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1063+3G>A",
"hgvs_p": null,
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "ENST00000693680.1",
"protein_id": "ENSP00000509539.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 680,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "NM_001368064.1",
"protein_id": "NP_001354993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "NM_001368065.1",
"protein_id": "NP_001354994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 1995,
"cdna_start": null,
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"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "ENST00000688001.1",
"protein_id": "ENSP00000508987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "ENST00000689296.1",
"protein_id": "ENSP00000510609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
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"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "NM_001080114.2",
"protein_id": "NP_001073583.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 617,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.718+3G>A",
"hgvs_p": null,
"transcript": "ENST00000429277.7",
"protein_id": "ENSP00000401437.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1063+3G>A",
"hgvs_p": null,
"transcript": "NM_001171611.2",
"protein_id": "NP_001165082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": -4,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.859+3G>A",
"hgvs_p": null,
"transcript": "NM_001080115.2",
"protein_id": "NP_001073584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.33,
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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{
"score": 0,
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],
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],
"clinvar_disease": "Myofibrillar myopathy 4,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Myofibrillar myopathy 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}