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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: X-103609366-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=103609366&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 103609366,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032926.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "NM_032926.3",
"protein_id": "NP_116315.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372627.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032926.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000372627.10",
"protein_id": "ENSP00000361710.5",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032926.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372627.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000243286.7",
"protein_id": "ENSP00000243286.3",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243286.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "NM_001006933.2",
"protein_id": "NP_001006934.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006933.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000372628.5",
"protein_id": "ENSP00000361711.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372628.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872581.1",
"protein_id": "ENSP00000542640.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872581.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872582.1",
"protein_id": "ENSP00000542641.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872582.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872583.1",
"protein_id": "ENSP00000542642.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872583.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872584.1",
"protein_id": "ENSP00000542643.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872584.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872585.1",
"protein_id": "ENSP00000542644.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872585.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872586.1",
"protein_id": "ENSP00000542645.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872586.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872587.1",
"protein_id": "ENSP00000542646.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872587.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872588.1",
"protein_id": "ENSP00000542647.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872588.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872589.1",
"protein_id": "ENSP00000542648.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872589.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872590.1",
"protein_id": "ENSP00000542649.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872590.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872591.1",
"protein_id": "ENSP00000542650.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872591.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872592.1",
"protein_id": "ENSP00000542651.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872592.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872593.1",
"protein_id": "ENSP00000542652.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872593.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000872594.1",
"protein_id": "ENSP00000542653.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872594.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000938709.1",
"protein_id": "ENSP00000608768.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938709.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000938710.1",
"protein_id": "ENSP00000608769.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938710.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL3",
"gene_hgnc_id": 28247,
"hgvs_c": "c.302C>G",
"hgvs_p": "p.Pro101Arg",
"transcript": "ENST00000938711.1",
"protein_id": "ENSP00000608770.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 200,
"cds_start": 302,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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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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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000801761.1",
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"effects": [
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}