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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: 6-73500590-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73500590&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTO1",
"hgnc_id": 19261,
"hgvs_c": "c.2054_2055delGCinsAT",
"hgvs_p": "p.Arg685His",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001123226.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "EEF1A1",
"hgnc_id": 3189,
"hgvs_c": "c.1030-7787_1030-7786delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000676547.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"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": "H",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10698,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012123.4",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1934_1935delGCinsAT",
"hgvs_p": "p.Arg645His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000498286.6",
"protein_coding": true,
"protein_id": "NP_036255.2",
"strand": true,
"transcript": "NM_012123.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10698,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498286.6",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1934_1935delGCinsAT",
"hgvs_p": "p.Arg645His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012123.4",
"protein_coding": true,
"protein_id": "ENSP00000419561.2",
"strand": true,
"transcript": "ENST00000498286.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 732,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000415954.6",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.2054_2055delGCinsAT",
"hgvs_p": "p.Arg685His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402038.2",
"strand": true,
"transcript": "ENST00000415954.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370300.8",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.2009_2010delGCinsAT",
"hgvs_p": "p.Arg670His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359323.4",
"strand": true,
"transcript": "ENST00000370300.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 643,
"aa_ref": "R",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1787,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370305.5",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1787_1788delGCinsAT",
"hgvs_p": "p.Arg596His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359328.1",
"strand": true,
"transcript": "ENST00000370305.5",
"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": 2621,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000370308.8",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "n.2115_2116delGCinsAT",
"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": "ENST00000370308.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 732,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10818,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001123226.2",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.2054_2055delGCinsAT",
"hgvs_p": "p.Arg685His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116698.1",
"strand": true,
"transcript": "NM_001123226.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10773,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133645.3",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.2009_2010delGCinsAT",
"hgvs_p": "p.Arg670His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_598400.1",
"strand": true,
"transcript": "NM_133645.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969378.1",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1898_1899delGCinsAT",
"hgvs_p": "p.Arg633His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639437.1",
"strand": true,
"transcript": "ENST00000969378.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3618,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680686.1",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1712_1713delGCinsAT",
"hgvs_p": "p.Arg571His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506609.1",
"strand": true,
"transcript": "ENST00000680686.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1652,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681500.1",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1652_1653delGCinsAT",
"hgvs_p": "p.Arg551His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506439.1",
"strand": true,
"transcript": "ENST00000681500.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 494,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861273.1",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1340_1341delGCinsAT",
"hgvs_p": "p.Arg447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531332.1",
"strand": true,
"transcript": "ENST00000861273.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969379.1",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.1277_1278delGCinsAT",
"hgvs_p": "p.Arg426His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639438.1",
"strand": true,
"transcript": "ENST00000969379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000681204.1",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.*3_*4delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505819.1",
"strand": true,
"transcript": "ENST00000681204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 515,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": null,
"cds_end": null,
"cds_length": 1548,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000521156.6",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "c.*3_*4delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428863.2",
"strand": true,
"transcript": "ENST00000521156.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 376,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5132,
"cdna_start": null,
"cds_end": null,
"cds_length": 1131,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676547.1",
"gene_hgnc_id": 3189,
"gene_symbol": "EEF1A1",
"hgvs_c": "c.1030-7787_1030-7786delGCinsAT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503518.1",
"strand": false,
"transcript": "ENST00000676547.1",
"transcript_support_level": null
},
{
"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": 2240,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000415228.5",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "n.*1065_*1066delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416397.1",
"strand": true,
"transcript": "ENST00000415228.5",
"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": 1863,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000442897.7",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "n.*904_*905delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396529.2",
"strand": true,
"transcript": "ENST00000442897.7",
"transcript_support_level": 4
},
{
"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": 2114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000445187.6",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "n.*915_*916delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407580.2",
"strand": true,
"transcript": "ENST00000445187.6",
"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": 2416,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000462039.5",
"gene_hgnc_id": 19261,
"gene_symbol": "MTO1",
"hgvs_c": "n.1956_1957delGCinsAT",
"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": "ENST00000462039.5",
"transcript_support_level": 2
},
{
"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": 2357,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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