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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-103609583-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=103609583&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCEAL3",
"hgnc_id": 28247,
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_032926.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000304280",
"hgnc_id": null,
"hgvs_c": "n.213-4899G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000801761.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.7447,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08059632778167725,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 712,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_032926.3",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372627.10",
"protein_coding": true,
"protein_id": "NP_116315.1",
"strand": true,
"transcript": "NM_032926.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 712,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372627.10",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032926.3",
"protein_coding": true,
"protein_id": "ENSP00000361710.5",
"strand": true,
"transcript": "ENST00000372627.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1124,
"cdna_start": 781,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000243286.7",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000243286.3",
"strand": true,
"transcript": "ENST00000243286.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1068,
"cdna_start": 724,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001006933.2",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006934.1",
"strand": true,
"transcript": "NM_001006933.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 877,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372628.5",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361711.1",
"strand": true,
"transcript": "ENST00000372628.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872581.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542640.1",
"strand": true,
"transcript": "ENST00000872581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 802,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872582.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542641.1",
"strand": true,
"transcript": "ENST00000872582.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872583.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542642.1",
"strand": true,
"transcript": "ENST00000872583.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1188,
"cdna_start": 857,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872584.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542643.1",
"strand": true,
"transcript": "ENST00000872584.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 786,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872585.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542644.1",
"strand": true,
"transcript": "ENST00000872585.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1053,
"cdna_start": 709,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872586.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542645.1",
"strand": true,
"transcript": "ENST00000872586.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872587.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542646.1",
"strand": true,
"transcript": "ENST00000872587.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872588.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542647.1",
"strand": true,
"transcript": "ENST00000872588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": 686,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872589.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542648.1",
"strand": true,
"transcript": "ENST00000872589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 805,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872590.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542649.1",
"strand": true,
"transcript": "ENST00000872590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 966,
"cdna_start": 635,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872591.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542650.1",
"strand": true,
"transcript": "ENST00000872591.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 643,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872592.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542651.1",
"strand": true,
"transcript": "ENST00000872592.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 947,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872593.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542652.1",
"strand": true,
"transcript": "ENST00000872593.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 630,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872594.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542653.1",
"strand": true,
"transcript": "ENST00000872594.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 761,
"cds_end": null,
"cds_length": 603,
"cds_start": 519,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938709.1",
"gene_hgnc_id": 28247,
"gene_symbol": "TCEAL3",
"hgvs_c": "c.519C>G",
"hgvs_p": "p.Phe173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608768.1",
"strand": true,
"transcript": "ENST00000938709.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
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