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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: 1-23694734-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23694734&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RPL11",
"hgnc_id": 10301,
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000975.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 57574,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "Diamond-Blackfan anemia,Diamond-Blackfan anemia 7,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": 357,
"cds_end": null,
"cds_length": 537,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000975.5",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000643754.2",
"protein_coding": true,
"protein_id": "NP_000966.2",
"strand": true,
"transcript": "NM_000975.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": 357,
"cds_end": null,
"cds_length": 537,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643754.2",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000975.5",
"protein_coding": true,
"protein_id": "ENSP00000496250.1",
"strand": true,
"transcript": "ENST00000643754.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 177,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": 418,
"cds_end": null,
"cds_length": 534,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000374550.8",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363676.4",
"strand": true,
"transcript": "ENST00000374550.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 167,
"aa_ref": "I",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 879,
"cdna_start": 636,
"cds_end": null,
"cds_length": 504,
"cds_start": 306,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000458455.2",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.306C>T",
"hgvs_p": "p.Ile102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398888.2",
"strand": true,
"transcript": "ENST00000458455.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000482370.2",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "n.333C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000482370.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 185,
"aa_ref": "I",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 621,
"cdna_start": 378,
"cds_end": null,
"cds_length": 558,
"cds_start": 360,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933799.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Ile120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603858.1",
"strand": true,
"transcript": "ENST00000933799.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 604,
"cdna_start": 357,
"cds_end": null,
"cds_length": 537,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970070.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640129.1",
"strand": true,
"transcript": "ENST00000970070.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 177,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 631,
"cdna_start": 381,
"cds_end": null,
"cds_length": 534,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001199802.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186731.1",
"strand": true,
"transcript": "NM_001199802.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 177,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 629,
"cdna_start": 382,
"cds_end": null,
"cds_length": 534,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933792.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603851.1",
"strand": true,
"transcript": "ENST00000933792.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 177,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 620,
"cdna_start": 375,
"cds_end": null,
"cds_length": 534,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970068.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640127.1",
"strand": true,
"transcript": "ENST00000970068.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 176,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 358,
"cds_end": null,
"cds_length": 531,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970069.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640128.1",
"strand": true,
"transcript": "ENST00000970069.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 175,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 719,
"cdna_start": 469,
"cds_end": null,
"cds_length": 528,
"cds_start": 330,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933788.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Ile110Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603847.1",
"strand": true,
"transcript": "ENST00000933788.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 174,
"aa_ref": "I",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 613,
"cdna_start": 363,
"cds_end": null,
"cds_length": 525,
"cds_start": 327,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933794.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Ile109Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603853.1",
"strand": true,
"transcript": "ENST00000933794.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 173,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": 359,
"cds_end": null,
"cds_length": 522,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933795.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ile108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603854.1",
"strand": true,
"transcript": "ENST00000933795.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 155,
"aa_ref": "I",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 531,
"cdna_start": 288,
"cds_end": null,
"cds_length": 468,
"cds_start": 270,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933801.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Ile90Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603860.1",
"strand": true,
"transcript": "ENST00000933801.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 141,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 504,
"cdna_start": 365,
"cds_end": null,
"cds_length": 426,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933796.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Ile113Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603855.1",
"strand": true,
"transcript": "ENST00000933796.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 138,
"aa_ref": "I",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 586,
"cdna_start": 336,
"cds_end": null,
"cds_length": 417,
"cds_start": 219,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933789.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Ile73Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603848.1",
"strand": true,
"transcript": "ENST00000933789.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 128,
"aa_ref": "I",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 482,
"cdna_start": 232,
"cds_end": null,
"cds_length": 387,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933791.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.189C>T",
"hgvs_p": "p.Ile63Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603850.1",
"strand": true,
"transcript": "ENST00000933791.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 127,
"aa_ref": "I",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 461,
"cdna_start": 218,
"cds_end": null,
"cds_length": 384,
"cds_start": 186,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933797.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Ile62Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603856.1",
"strand": true,
"transcript": "ENST00000933797.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 92,
"aa_ref": "I",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 371,
"cdna_start": 124,
"cds_end": null,
"cds_length": 279,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933793.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.81C>T",
"hgvs_p": "p.Ile27Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603852.1",
"strand": true,
"transcript": "ENST00000933793.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 472,
"cdna_start": null,
"cds_end": null,
"cds_length": 405,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895876.1",
"gene_hgnc_id": 10301,
"gene_symbol": "RPL11",
"hgvs_c": "c.264+821C>T",
"hgvs_p": null,
"intron_rank": 3,
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