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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: 17-7254740-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7254740&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7254740,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015362.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "NM_203414.3",
"protein_id": "NP_981959.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396628.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203414.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000396628.7",
"protein_id": "ENSP00000379869.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203414.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396628.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000396627.7",
"protein_id": "ENSP00000379868.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396627.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000574993.6",
"protein_id": "ENSP00000459835.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 263,
"cds_start": 346,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574993.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114Cys",
"transcript": "ENST00000576496.5",
"protein_id": "ENSP00000459010.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 261,
"cds_start": 340,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576496.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000573657.6",
"protein_id": "ENSP00000459633.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 163,
"cds_start": 346,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573657.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262302",
"gene_hgnc_id": null,
"hgvs_c": "n.223+7081G>A",
"hgvs_p": null,
"transcript": "ENST00000577138.1",
"protein_id": "ENSP00000460571.1",
"transcript_support_level": 3,
"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": "ENST00000577138.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Cys",
"transcript": "ENST00000715856.1",
"protein_id": "ENSP00000520527.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 316,
"cds_start": 394,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715856.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000964725.1",
"protein_id": "ENSP00000634784.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 307,
"cds_start": 346,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964725.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888427.1",
"protein_id": "ENSP00000558486.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 306,
"cds_start": 346,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888427.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "NM_015362.5",
"protein_id": "NP_056177.4",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015362.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "NM_203415.4",
"protein_id": "NP_981960.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203415.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000354429.7",
"protein_id": "ENSP00000346412.3",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354429.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888421.1",
"protein_id": "ENSP00000558480.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888421.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888422.1",
"protein_id": "ENSP00000558481.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888422.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888423.1",
"protein_id": "ENSP00000558482.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888423.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888424.1",
"protein_id": "ENSP00000558483.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888424.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888425.1",
"protein_id": "ENSP00000558484.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888425.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000888426.1",
"protein_id": "ENSP00000558485.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888426.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000912605.1",
"protein_id": "ENSP00000582664.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912605.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000964723.1",
"protein_id": "ENSP00000634782.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964723.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP5",
"gene_hgnc_id": 30617,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"transcript": "ENST00000964724.1",
"protein_id": "ENSP00000634783.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 300,
"cds_start": 346,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964724.1"
},
{
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{
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{
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],
"gene_symbol": "ELP5",
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"dbsnp": "rs764610254",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33307212591171265,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.1007,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.755,
"phylop100way_prediction": "Uncertain_significance",
"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",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015362.5",
"gene_symbol": "ELP5",
"hgnc_id": 30617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577138.1",
"gene_symbol": "ENSG00000262302",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.223+7081G>A",
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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
}