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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: 2-27377546-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27377546&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM4",
"BS2"
],
"effects": [
"stop_lost"
],
"gene_symbol": "ZNF513",
"hgnc_id": 26498,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Ter542Leuext*?",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_144631.6",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "SNX17",
"hgnc_id": 14979,
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014748.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BS2",
"acmg_score": -2,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "*",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1625,
"consequences": [
"stop_lost"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_144631.6",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Ter542Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323703.11",
"protein_coding": true,
"protein_id": "NP_653232.3",
"strand": false,
"transcript": "NM_144631.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "*",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1625,
"consequences": [
"stop_lost"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000323703.11",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Ter542Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144631.6",
"protein_coding": true,
"protein_id": "ENSP00000318373.6",
"strand": false,
"transcript": "ENST00000323703.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 479,
"aa_ref": "*",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1439,
"consequences": [
"stop_lost"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000407879.1",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "c.1439G>T",
"hgvs_p": "p.Ter480Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384874.1",
"strand": false,
"transcript": "ENST00000407879.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "*",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1607,
"consequences": [
"stop_lost"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917778.1",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "c.1607G>T",
"hgvs_p": "p.Ter536Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587837.1",
"strand": false,
"transcript": "ENST00000917778.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 479,
"aa_ref": "*",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1439,
"consequences": [
"stop_lost"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001201459.2",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "c.1439G>T",
"hgvs_p": "p.Ter480Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188388.1",
"strand": false,
"transcript": "NM_001201459.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 373,
"aa_ref": "*",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1121,
"consequences": [
"stop_lost"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005264143.4",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "c.1121G>T",
"hgvs_p": "p.Ter374Leuext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264200.1",
"strand": false,
"transcript": "XM_005264143.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014748.4",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233575.7",
"protein_coding": true,
"protein_id": "NP_055563.1",
"strand": true,
"transcript": "NM_014748.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000233575.7",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014748.4",
"protein_coding": true,
"protein_id": "ENSP00000233575.2",
"strand": true,
"transcript": "ENST00000233575.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901233.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571292.1",
"strand": true,
"transcript": "ENST00000901233.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917628.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587687.1",
"strand": true,
"transcript": "ENST00000917628.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 458,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": null,
"cds_end": null,
"cds_length": 1377,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267059.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253988.1",
"strand": true,
"transcript": "NM_001267059.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267061.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253990.1",
"strand": true,
"transcript": "NM_001267061.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001267060.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253989.1",
"strand": true,
"transcript": "NM_001267060.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537606.5",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439208.1",
"strand": true,
"transcript": "ENST00000537606.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901234.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571293.1",
"strand": true,
"transcript": "ENST00000901234.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 420,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": null,
"cds_end": null,
"cds_length": 1263,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971558.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641617.1",
"strand": true,
"transcript": "ENST00000971558.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 414,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": 1245,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901235.1",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571294.1",
"strand": true,
"transcript": "ENST00000901235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533203.3",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "c.*827C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531505.1",
"strand": true,
"transcript": "XM_011533203.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491924.1",
"gene_hgnc_id": 26498,
"gene_symbol": "ZNF513",
"hgvs_c": "n.*178G>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": "ENST00000491924.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_049782.2",
"gene_hgnc_id": 14979,
"gene_symbol": "SNX17",
"hgvs_c": "n.*11C>A",
"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": "NR_049782.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_049783.2",
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