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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: 17-35016546-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35016546&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RFFL",
"hgnc_id": 24821,
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001017368.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000267618",
"hgnc_id": null,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000593039.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RAD51L3-RFFL",
"hgnc_id": null,
"hgvs_c": "n.690G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NR_037714.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8168,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3543992042541504,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7210,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001017368.2",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394597.7",
"protein_coding": true,
"protein_id": "NP_001017368.1",
"strand": false,
"transcript": "NM_001017368.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7210,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394597.7",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001017368.2",
"protein_coding": true,
"protein_id": "ENSP00000378096.3",
"strand": false,
"transcript": "ENST00000394597.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 272,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 661,
"cds_end": null,
"cds_length": 819,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000593039.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267618",
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466834.1",
"strand": false,
"transcript": "ENST00000593039.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1134,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948502.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618561.1",
"strand": false,
"transcript": "ENST00000948502.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1095,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910974.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581033.1",
"strand": false,
"transcript": "ENST00000910974.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1095,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910990.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581049.1",
"strand": false,
"transcript": "ENST00000910990.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7293,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000315249.11",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326170.7",
"strand": false,
"transcript": "ENST00000315249.11",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000415395.6",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412322.2",
"strand": false,
"transcript": "ENST00000415395.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000447669.6",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389832.2",
"strand": false,
"transcript": "ENST00000447669.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910977.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581036.1",
"strand": false,
"transcript": "ENST00000910977.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910979.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581038.1",
"strand": false,
"transcript": "ENST00000910979.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910981.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581040.1",
"strand": false,
"transcript": "ENST00000910981.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910982.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581041.1",
"strand": false,
"transcript": "ENST00000910982.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4036,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910983.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581042.1",
"strand": false,
"transcript": "ENST00000910983.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910988.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581047.1",
"strand": false,
"transcript": "ENST00000910988.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932382.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602441.1",
"strand": false,
"transcript": "ENST00000932382.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948498.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618557.1",
"strand": false,
"transcript": "ENST00000948498.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1092,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948499.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618558.1",
"strand": false,
"transcript": "ENST00000948499.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1089,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910975.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581034.1",
"strand": false,
"transcript": "ENST00000910975.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4164,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1071,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932381.1",
"gene_hgnc_id": 24821,
"gene_symbol": "RFFL",
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602440.1",
"strand": false,
"transcript": "ENST00000932381.1",
"transcript_support_level": null
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}