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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: 3-66380403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=66380403&ref=C&alt=T&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": "LRIG1",
"hgnc_id": 17360,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Glu1048Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015541.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SLC25A26",
"hgnc_id": 20661,
"hgvs_c": "n.*997C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000464350.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1023,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "3",
"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": 0.08785662055015564,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "E",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 3757,
"cds_end": null,
"cds_length": 3282,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_015541.3",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Glu1048Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273261.8",
"protein_coding": true,
"protein_id": "NP_056356.2",
"strand": false,
"transcript": "NM_015541.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "E",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 3757,
"cds_end": null,
"cds_length": 3282,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000273261.8",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Glu1048Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015541.3",
"protein_coding": true,
"protein_id": "ENSP00000273261.3",
"strand": false,
"transcript": "ENST00000273261.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5283,
"cdna_start": 3677,
"cds_end": null,
"cds_length": 3213,
"cds_start": 3073,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000383703.3",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3073G>A",
"hgvs_p": "p.Glu1025Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373208.3",
"strand": false,
"transcript": "ENST00000383703.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000464350.6",
"gene_hgnc_id": 20661,
"gene_symbol": "SLC25A26",
"hgvs_c": "n.*997C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432574.2",
"strand": true,
"transcript": "ENST00000464350.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000464350.6",
"gene_hgnc_id": 20661,
"gene_symbol": "SLC25A26",
"hgvs_c": "n.*997C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432574.2",
"strand": true,
"transcript": "ENST00000464350.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "E",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5423,
"cdna_start": 3817,
"cds_end": null,
"cds_length": 3357,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000895940.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3217G>A",
"hgvs_p": "p.Glu1073Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565999.1",
"strand": false,
"transcript": "ENST00000895940.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "E",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": 3907,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3205,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000930929.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600988.1",
"strand": false,
"transcript": "ENST00000930929.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "E",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5272,
"cdna_start": 3666,
"cds_end": null,
"cds_length": 3216,
"cds_start": 3076,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000895945.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3076G>A",
"hgvs_p": "p.Glu1026Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566004.1",
"strand": false,
"transcript": "ENST00000895945.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "E",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5291,
"cdna_start": 3685,
"cds_end": null,
"cds_length": 3210,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895935.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3070G>A",
"hgvs_p": "p.Glu1024Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565994.1",
"strand": false,
"transcript": "ENST00000895935.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "E",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 3678,
"cds_end": null,
"cds_length": 3210,
"cds_start": 3070,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895937.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3070G>A",
"hgvs_p": "p.Glu1024Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565996.1",
"strand": false,
"transcript": "ENST00000895937.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "E",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5288,
"cdna_start": 3682,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3067,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001377344.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Glu1023Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364273.1",
"strand": false,
"transcript": "NM_001377344.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "E",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5288,
"cdna_start": 3682,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3067,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895934.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Glu1023Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565993.1",
"strand": false,
"transcript": "ENST00000895934.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "E",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 3201,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895938.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3061G>A",
"hgvs_p": "p.Glu1021Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565997.1",
"strand": false,
"transcript": "ENST00000895938.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "E",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 3661,
"cds_end": null,
"cds_length": 3201,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895943.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3061G>A",
"hgvs_p": "p.Glu1021Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566002.1",
"strand": false,
"transcript": "ENST00000895943.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "E",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5224,
"cdna_start": 3619,
"cds_end": null,
"cds_length": 3144,
"cds_start": 3004,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895936.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3004G>A",
"hgvs_p": "p.Glu1002Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565995.1",
"strand": false,
"transcript": "ENST00000895936.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "E",
"aa_start": 1001,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 3601,
"cds_end": null,
"cds_length": 3141,
"cds_start": 3001,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000895941.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.3001G>A",
"hgvs_p": "p.Glu1001Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566000.1",
"strand": false,
"transcript": "ENST00000895941.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "E",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 3613,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2998,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895933.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Glu1000Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565992.1",
"strand": false,
"transcript": "ENST00000895933.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "E",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2998,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000895946.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Glu1000Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566005.1",
"strand": false,
"transcript": "ENST00000895946.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "E",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 3599,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2995,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000895939.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Glu999Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565998.1",
"strand": false,
"transcript": "ENST00000895939.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "E",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5213,
"cdna_start": 3610,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2995,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000930939.1",
"gene_hgnc_id": 17360,
"gene_symbol": "LRIG1",
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Glu999Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600998.1",
"strand": false,
"transcript": "ENST00000930939.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
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}