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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: 3-124719426-AAT-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124719426&ref=AAT&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "KALRN",
"hgnc_id": 4814,
"hgvs_c": "c.8917_8919delAATinsTCG",
"hgvs_p": "p.Asn2973Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001024660.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "S",
"aa_end": null,
"aa_length": 2986,
"aa_ref": "N",
"aa_start": 2973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16188,
"cdna_start": 9289,
"cds_end": null,
"cds_length": 8961,
"cds_start": 8917,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388419.1",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8917_8919delAATinsTCG",
"hgvs_p": "p.Asn2973Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682506.1",
"protein_coding": true,
"protein_id": "NP_001375348.1",
"strand": true,
"transcript": "NM_001388419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2986,
"aa_ref": "N",
"aa_start": 2973,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16188,
"cdna_start": 9289,
"cds_end": null,
"cds_length": 8961,
"cds_start": 8917,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682506.1",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8917_8919delAATinsTCG",
"hgvs_p": "p.Asn2973Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001388419.1",
"protein_coding": true,
"protein_id": "ENSP00000508359.1",
"strand": true,
"transcript": "ENST00000682506.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "N",
"aa_start": 1276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10888,
"cdna_start": 3989,
"cds_end": null,
"cds_length": 3870,
"cds_start": 3826,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000291478.9",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.3826_3828delAATinsTCG",
"hgvs_p": "p.Asn1276Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000291478.4",
"strand": true,
"transcript": "ENST00000291478.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2986,
"aa_ref": "N",
"aa_start": 2973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15947,
"cdna_start": 9048,
"cds_end": null,
"cds_length": 8961,
"cds_start": 8917,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001024660.5",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8917_8919delAATinsTCG",
"hgvs_p": "p.Asn2973Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001019831.2",
"strand": true,
"transcript": "NM_001024660.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2986,
"aa_ref": "N",
"aa_start": 2973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10806,
"cdna_start": 9044,
"cds_end": null,
"cds_length": 8961,
"cds_start": 8917,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360013.7",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8917_8919delAATinsTCG",
"hgvs_p": "p.Asn2973Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353109.3",
"strand": true,
"transcript": "ENST00000360013.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2954,
"aa_ref": "N",
"aa_start": 2941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10586,
"cdna_start": 8823,
"cds_end": null,
"cds_length": 8865,
"cds_start": 8821,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354186.8",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8821_8823delAATinsTCG",
"hgvs_p": "p.Asn2941Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346122.4",
"strand": true,
"transcript": "ENST00000354186.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "N",
"aa_start": 1276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10889,
"cdna_start": 3990,
"cds_end": null,
"cds_length": 3870,
"cds_start": 3826,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007064.5",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.3826_3828delAATinsTCG",
"hgvs_p": "p.Asn1276Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_008995.2",
"strand": true,
"transcript": "NM_007064.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "N",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10886,
"cdna_start": 3987,
"cds_end": null,
"cds_length": 3867,
"cds_start": 3823,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322993.2",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.3823_3825delAATinsTCG",
"hgvs_p": "p.Asn1275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309922.1",
"strand": true,
"transcript": "NM_001322993.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2988,
"aa_ref": "N",
"aa_start": 2975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16194,
"cdna_start": 9295,
"cds_end": null,
"cds_length": 8967,
"cds_start": 8923,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713810.4",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8923_8925delAATinsTCG",
"hgvs_p": "p.Asn2975Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713873.1",
"strand": true,
"transcript": "XM_006713810.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2987,
"aa_ref": "N",
"aa_start": 2974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16191,
"cdna_start": 9292,
"cds_end": null,
"cds_length": 8964,
"cds_start": 8920,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513279.3",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8920_8922delAATinsTCG",
"hgvs_p": "p.Asn2974Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511581.1",
"strand": true,
"transcript": "XM_011513279.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2987,
"aa_ref": "N",
"aa_start": 2974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16191,
"cdna_start": 9292,
"cds_end": null,
"cds_length": 8964,
"cds_start": 8920,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513280.3",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8920_8922delAATinsTCG",
"hgvs_p": "p.Asn2974Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511582.1",
"strand": true,
"transcript": "XM_011513280.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2979,
"aa_ref": "N",
"aa_start": 2966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16167,
"cdna_start": 9268,
"cds_end": null,
"cds_length": 8940,
"cds_start": 8896,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713811.4",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8896_8898delAATinsTCG",
"hgvs_p": "p.Asn2966Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713874.1",
"strand": true,
"transcript": "XM_006713811.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2977,
"aa_ref": "N",
"aa_start": 2964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15920,
"cdna_start": 9021,
"cds_end": null,
"cds_length": 8934,
"cds_start": 8890,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513281.4",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8890_8892delAATinsTCG",
"hgvs_p": "p.Asn2964Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511583.1",
"strand": true,
"transcript": "XM_011513281.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2975,
"aa_ref": "N",
"aa_start": 2962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16155,
"cdna_start": 9256,
"cds_end": null,
"cds_length": 8928,
"cds_start": 8884,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713812.4",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8884_8886delAATinsTCG",
"hgvs_p": "p.Asn2962Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713875.1",
"strand": true,
"transcript": "XM_006713812.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2968,
"aa_ref": "N",
"aa_start": 2955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16134,
"cdna_start": 9235,
"cds_end": null,
"cds_length": 8907,
"cds_start": 8863,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007429.2",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8863_8865delAATinsTCG",
"hgvs_p": "p.Asn2955Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862918.1",
"strand": true,
"transcript": "XM_017007429.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2967,
"aa_ref": "N",
"aa_start": 2954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16131,
"cdna_start": 9232,
"cds_end": null,
"cds_length": 8904,
"cds_start": 8860,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449157.1",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8860_8862delAATinsTCG",
"hgvs_p": "p.Asn2954Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305113.1",
"strand": true,
"transcript": "XM_047449157.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2966,
"aa_ref": "N",
"aa_start": 2953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16128,
"cdna_start": 9229,
"cds_end": null,
"cds_length": 8901,
"cds_start": 8857,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713813.4",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8857_8859delAATinsTCG",
"hgvs_p": "p.Asn2953Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713876.1",
"strand": true,
"transcript": "XM_006713813.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2956,
"aa_ref": "N",
"aa_start": 2943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16098,
"cdna_start": 9199,
"cds_end": null,
"cds_length": 8871,
"cds_start": 8827,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713814.4",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8827_8829delAATinsTCG",
"hgvs_p": "p.Asn2943Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713877.1",
"strand": true,
"transcript": "XM_006713814.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2955,
"aa_ref": "N",
"aa_start": 2942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16095,
"cdna_start": 9196,
"cds_end": null,
"cds_length": 8868,
"cds_start": 8824,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007430.2",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8824_8826delAATinsTCG",
"hgvs_p": "p.Asn2942Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862919.1",
"strand": true,
"transcript": "XM_017007430.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2955,
"aa_ref": "N",
"aa_start": 2942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16095,
"cdna_start": 9196,
"cds_end": null,
"cds_length": 8868,
"cds_start": 8824,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449158.1",
"gene_hgnc_id": 4814,
"gene_symbol": "KALRN",
"hgvs_c": "c.8824_8826delAATinsTCG",
"hgvs_p": "p.Asn2942Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305114.1",
"strand": true,
"transcript": "XM_047449158.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2942,
"aa_ref": "N",
"aa_start": 2929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16056,
"cdna_start": 9157,
"cds_end": null,
"cds_length": 8829,
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