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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: 18-36142309-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36142309&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36142309,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000358232.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.His206Arg",
"transcript": "NM_018255.4",
"protein_id": "NP_060725.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 826,
"cds_start": 617,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": "ENST00000358232.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.His206Arg",
"transcript": "ENST00000358232.11",
"protein_id": "ENSP00000350967.6",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 826,
"cds_start": 617,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": "NM_018255.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.His180Arg",
"transcript": "ENST00000542824.5",
"protein_id": "ENSP00000443800.1",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 756,
"cds_start": 539,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2288,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.617A>G",
"hgvs_p": null,
"transcript": "ENST00000539560.5",
"protein_id": "ENSP00000443555.1",
"transcript_support_level": 1,
"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": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.446-517A>G",
"hgvs_p": null,
"transcript": "ENST00000423854.6",
"protein_id": "ENSP00000391202.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.His271Arg",
"transcript": "NM_001242875.3",
"protein_id": "NP_001229804.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 891,
"cds_start": 812,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 8627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.His271Arg",
"transcript": "ENST00000442325.6",
"protein_id": "ENSP00000414851.2",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 891,
"cds_start": 812,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "NM_001324466.2",
"protein_id": "NP_001311395.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 865,
"cds_start": 734,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "NM_001242876.3",
"protein_id": "NP_001229805.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 821,
"cds_start": 734,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000350494.10",
"protein_id": "ENSP00000316051.6",
"transcript_support_level": 2,
"aa_start": 245,
"aa_end": null,
"aa_length": 821,
"cds_start": 734,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.His180Arg",
"transcript": "NM_001242877.3",
"protein_id": "NP_001229806.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 800,
"cds_start": 539,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 8354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.His180Arg",
"transcript": "ENST00000351393.10",
"protein_id": "ENSP00000257191.7",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 800,
"cds_start": 539,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.His206Arg",
"transcript": "NM_001324465.2",
"protein_id": "NP_001311394.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 782,
"cds_start": 617,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 8300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.617A>G",
"hgvs_p": "p.His206Arg",
"transcript": "NM_001324467.2",
"protein_id": "NP_001311396.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 776,
"cds_start": 617,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 8282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.His180Arg",
"transcript": "NM_001242878.3",
"protein_id": "NP_001229807.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 756,
"cds_start": 539,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.His57Arg",
"transcript": "NM_001324468.2",
"protein_id": "NP_001311397.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 677,
"cds_start": 170,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 8353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.His271Arg",
"transcript": "XM_047437610.1",
"protein_id": "XP_047293566.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 777,
"cds_start": 812,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.His57Arg",
"transcript": "ENST00000543127.5",
"protein_id": "ENSP00000440426.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 56,
"cds_start": 170,
"cds_end": null,
"cds_length": 172,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 535,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.79A>G",
"hgvs_p": null,
"transcript": "ENST00000535093.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 582,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.160A>G",
"hgvs_p": null,
"transcript": "ENST00000536373.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 759,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.504A>G",
"hgvs_p": null,
"transcript": "ENST00000540323.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.576A>G",
"hgvs_p": null,
"transcript": "ENST00000540730.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.*229A>G",
"hgvs_p": null,
"transcript": "ENST00000542430.5",
"protein_id": "ENSP00000440774.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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],
"gene_symbol": "ELP2",
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"dbsnp": "rs773432002",
"frequency_reference_population": 0.0000024784529,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000020524,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9810585975646973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.942,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.95,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.423,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000358232.11",
"gene_symbol": "ELP2",
"hgnc_id": 18248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.617A>G",
"hgvs_p": "p.His206Arg"
}
],
"clinvar_disease": " autosomal recessive 58,ELP2-related disorder,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"phenotype_combined": "Inborn genetic diseases|ELP2-related disorder|Intellectual disability, autosomal recessive 58|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}