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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: 11-17402718-GG-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17402718&ref=GG&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC8",
"hgnc_id": 59,
"hgvs_c": "c.3658_3659delCCinsTT",
"hgvs_p": "p.Pro1220Leu",
"inheritance_mode": "AD,AR,SD,Unknown",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001351295.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Very_Strong,PP3",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "P",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000352.6",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3592_3593delCCinsTT",
"hgvs_p": "p.Pro1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389817.8",
"protein_coding": true,
"protein_id": "NP_000343.2",
"strand": false,
"transcript": "NM_000352.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "P",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389817.8",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3592_3593delCCinsTT",
"hgvs_p": "p.Pro1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000352.6",
"protein_coding": true,
"protein_id": "ENSP00000374467.4",
"strand": false,
"transcript": "ENST00000389817.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "P",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3658,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351295.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3658_3659delCCinsTT",
"hgvs_p": "p.Pro1220Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338224.1",
"strand": false,
"transcript": "NM_001351295.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "P",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5336,
"cdna_start": 3690,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3658,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644772.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3658_3659delCCinsTT",
"hgvs_p": "p.Pro1220Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494321.1",
"strand": false,
"transcript": "ENST00000644772.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "P",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 4749,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287174.3",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3595_3596delCCinsTT",
"hgvs_p": "p.Pro1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274103.1",
"strand": false,
"transcript": "NM_001287174.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "P",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 4749,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302539.9",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3595_3596delCCinsTT",
"hgvs_p": "p.Pro1199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303960.4",
"strand": false,
"transcript": "ENST00000302539.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "P",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351296.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3592_3593delCCinsTT",
"hgvs_p": "p.Pro1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338225.1",
"strand": false,
"transcript": "NM_001351296.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "P",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 4746,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643260.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3592_3593delCCinsTT",
"hgvs_p": "p.Pro1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494450.1",
"strand": false,
"transcript": "ENST00000643260.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "P",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 4743,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351297.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3589_3590delCCinsTT",
"hgvs_p": "p.Pro1197Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338226.1",
"strand": false,
"transcript": "NM_001351297.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "P",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 3625,
"cds_end": null,
"cds_length": 4743,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642271.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3589_3590delCCinsTT",
"hgvs_p": "p.Pro1197Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493749.1",
"strand": false,
"transcript": "ENST00000642271.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1570,
"aa_ref": "P",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 3658,
"cds_end": null,
"cds_length": 4713,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646902.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3589_3590delCCinsTT",
"hgvs_p": "p.Pro1197Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494101.1",
"strand": false,
"transcript": "ENST00000646902.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1542,
"aa_ref": "P",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 4629,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683136.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3589_3590delCCinsTT",
"hgvs_p": "p.Pro1197Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507768.1",
"strand": false,
"transcript": "ENST00000683136.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1528,
"aa_ref": "P",
"aa_start": 1145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 4587,
"cds_start": 3433,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684571.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3433_3434delCCinsTT",
"hgvs_p": "p.Pro1145Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506935.1",
"strand": false,
"transcript": "ENST00000684571.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "P",
"aa_start": 1115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 3412,
"cds_end": null,
"cds_length": 4497,
"cds_start": 3343,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647015.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.3343_3344delCCinsTT",
"hgvs_p": "p.Pro1115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495389.1",
"strand": false,
"transcript": "ENST00000647015.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 932,
"aa_ref": "P",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642579.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.1675_1676delCCinsTT",
"hgvs_p": "p.Pro559Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496714.1",
"strand": false,
"transcript": "ENST00000642579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 172,
"cds_end": null,
"cds_length": 1335,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528374.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "c.169_170delCCinsTT",
"hgvs_p": "p.Pro57Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433638.2",
"strand": false,
"transcript": "ENST00000528374.2",
"transcript_support_level": 5
},
{
"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": 4441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000524561.2",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.3161_3162delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524561.2",
"transcript_support_level": 5
},
{
"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": 4283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000527905.5",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.*468_*469delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431653.1",
"strand": false,
"transcript": "ENST00000527905.5",
"transcript_support_level": 5
},
{
"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": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000529967.6",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.1931_1932delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529967.6",
"transcript_support_level": 5
},
{
"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": 665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531137.1",
"gene_hgnc_id": 59,
"gene_symbol": "ABCC8",
"hgvs_c": "n.85_86delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000531137.1",
"transcript_support_level": 3
},
{
"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": 4073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
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