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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: 17-39725761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39725761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERBB2",
"hgnc_id": 3430,
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001382784.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.468,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5234062075614929,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "P",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 3768,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_004448.4",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2780C>T",
"hgvs_p": "p.Pro927Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269571.10",
"protein_coding": true,
"protein_id": "NP_004439.2",
"strand": true,
"transcript": "NM_004448.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "P",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 3768,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000269571.10",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2780C>T",
"hgvs_p": "p.Pro927Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004448.4",
"protein_coding": true,
"protein_id": "ENSP00000269571.4",
"strand": true,
"transcript": "ENST00000269571.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "P",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 2995,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000584450.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2780C>T",
"hgvs_p": "p.Pro927Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463714.1",
"strand": true,
"transcript": "ENST00000584450.5",
"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": 4523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000578373.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "n.*2570C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463427.1",
"strand": true,
"transcript": "ENST00000578373.5",
"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": 4523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000578373.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "n.*2570C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463427.1",
"strand": true,
"transcript": "ENST00000578373.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "P",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 3072,
"cds_end": null,
"cds_length": 3885,
"cds_start": 2897,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001382784.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369713.1",
"strand": true,
"transcript": "NM_001382784.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "P",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 3072,
"cds_end": null,
"cds_length": 3885,
"cds_start": 2897,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000578502.2",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464420.2",
"strand": true,
"transcript": "ENST00000578502.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "P",
"aa_start": 961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4659,
"cdna_start": 3057,
"cds_end": null,
"cds_length": 3870,
"cds_start": 2882,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001382785.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2882C>T",
"hgvs_p": "p.Pro961Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369714.1",
"strand": true,
"transcript": "NM_001382785.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "P",
"aa_start": 961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 3870,
"cds_start": 2882,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000938924.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2882C>T",
"hgvs_p": "p.Pro961Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608983.1",
"strand": true,
"transcript": "ENST00000938924.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "P",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 3036,
"cds_end": null,
"cds_length": 3849,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001382786.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Pro954Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369715.1",
"strand": true,
"transcript": "NM_001382786.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "P",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 3843,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382787.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2855C>T",
"hgvs_p": "p.Pro952Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369716.1",
"strand": true,
"transcript": "NM_001382787.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "P",
"aa_start": 938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 3061,
"cds_end": null,
"cds_length": 3801,
"cds_start": 2813,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000959774.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2813C>T",
"hgvs_p": "p.Pro938Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629833.1",
"strand": true,
"transcript": "ENST00000959774.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4587,
"cdna_start": 2985,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2810,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382788.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2810C>T",
"hgvs_p": "p.Pro937Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369717.1",
"strand": true,
"transcript": "NM_001382788.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2810,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000863103.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2810C>T",
"hgvs_p": "p.Pro937Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533162.1",
"strand": true,
"transcript": "ENST00000863103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 2976,
"cds_end": null,
"cds_length": 3789,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382789.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Pro934Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369718.1",
"strand": true,
"transcript": "NM_001382789.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "P",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 2952,
"cds_end": null,
"cds_length": 3765,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382790.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2777C>T",
"hgvs_p": "p.Pro926Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369719.1",
"strand": true,
"transcript": "NM_001382790.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "P",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": 2946,
"cds_end": null,
"cds_length": 3759,
"cds_start": 2771,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382791.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2771C>T",
"hgvs_p": "p.Pro924Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369720.1",
"strand": true,
"transcript": "NM_001382791.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "P",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 3759,
"cds_start": 2771,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000863096.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2771C>T",
"hgvs_p": "p.Pro924Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533155.1",
"strand": true,
"transcript": "ENST00000863096.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1245,
"aa_ref": "P",
"aa_start": 917,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 3738,
"cds_start": 2750,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000863097.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2750C>T",
"hgvs_p": "p.Pro917Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533156.1",
"strand": true,
"transcript": "ENST00000863097.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "P",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 2919,
"cds_end": null,
"cds_length": 3732,
"cds_start": 2744,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382792.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Pro915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369721.1",
"strand": true,
"transcript": "NM_001382792.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "P",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": 2913,
"cds_end": null,
"cds_length": 3726,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001382793.1",
"gene_hgnc_id": 3430,
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