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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: 19-35868677-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35868677&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35868677,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001024807.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "NM_001024807.3",
"protein_id": "NP_001019978.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 651,
"cds_start": 41,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221891.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024807.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000221891.9",
"protein_id": "ENSP00000221891.4",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 651,
"cds_start": 41,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001024807.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221891.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000960045.1",
"protein_id": "ENSP00000630104.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 673,
"cds_start": 41,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960045.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898023.1",
"protein_id": "ENSP00000568082.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 655,
"cds_start": 41,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898023.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898026.1",
"protein_id": "ENSP00000568085.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 654,
"cds_start": 41,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898026.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "NM_005166.5",
"protein_id": "NP_005157.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 650,
"cds_start": 41,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005166.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000652533.2",
"protein_id": "ENSP00000498366.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 650,
"cds_start": 41,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652533.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898022.1",
"protein_id": "ENSP00000568081.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 648,
"cds_start": 41,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898022.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898029.1",
"protein_id": "ENSP00000568088.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 648,
"cds_start": 41,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898029.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898020.1",
"protein_id": "ENSP00000568079.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 647,
"cds_start": 41,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898020.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898034.1",
"protein_id": "ENSP00000568093.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 647,
"cds_start": 41,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898034.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000912740.1",
"protein_id": "ENSP00000582799.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 646,
"cds_start": 41,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912740.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898030.1",
"protein_id": "ENSP00000568089.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 639,
"cds_start": 41,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898030.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898032.1",
"protein_id": "ENSP00000568091.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 638,
"cds_start": 41,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898032.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000960049.1",
"protein_id": "ENSP00000630108.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 637,
"cds_start": 41,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960049.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898033.1",
"protein_id": "ENSP00000568092.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 632,
"cds_start": 41,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898033.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898028.1",
"protein_id": "ENSP00000568087.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 630,
"cds_start": 41,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898028.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898024.1",
"protein_id": "ENSP00000568083.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 629,
"cds_start": 41,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898024.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898031.1",
"protein_id": "ENSP00000568090.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 614,
"cds_start": 41,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898031.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000960046.1",
"protein_id": "ENSP00000630105.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 611,
"cds_start": 41,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960046.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000898025.1",
"protein_id": "ENSP00000568084.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 610,
"cds_start": 41,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898025.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP1",
"gene_hgnc_id": 597,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Arg14His",
"transcript": "ENST00000912739.1",
"protein_id": "ENSP00000582798.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 606,
"cds_start": 41,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912739.1"
},
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],
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"computational_score_selected": 0.2789148688316345,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.183,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.183,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001024807.3",
"gene_symbol": "APLP1",
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"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001753932.2",
"gene_symbol": "LOC107985317",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.266+415C>T",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000591817.1",
"gene_symbol": "NPHS1",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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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
}