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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: 9-135792144-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135792144&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNT1",
"hgnc_id": 18865,
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Asp1231Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_020822.3",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC107987140",
"hgnc_id": null,
"hgvs_c": "n.-103C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "XR_007061851.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1547,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 14,Autosomal dominant nocturnal frontal lobe epilepsy 5,Developmental and epileptic encephalopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34715086221694946,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "D",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3765,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3691,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_020822.3",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Asp1231Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371757.7",
"protein_coding": true,
"protein_id": "NP_065873.2",
"strand": true,
"transcript": "NM_020822.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "D",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3765,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3691,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000371757.7",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Asp1231Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020822.3",
"protein_coding": true,
"protein_id": "ENSP00000360822.2",
"strand": true,
"transcript": "ENST00000371757.7",
"transcript_support_level": 1
},
{
"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": 4738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000460750.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "n.*3364G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418777.1",
"strand": true,
"transcript": "ENST00000460750.5",
"transcript_support_level": 1
},
{
"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": 4738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000460750.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "n.*3364G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418777.1",
"strand": true,
"transcript": "ENST00000460750.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "D",
"aa_start": 1252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 3828,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3754,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000487664.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3754G>A",
"hgvs_p": "p.Asp1252Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417851.2",
"strand": true,
"transcript": "ENST00000487664.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "D",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 3705,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3697,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000631073.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3697G>A",
"hgvs_p": "p.Asp1233Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486130.1",
"strand": true,
"transcript": "ENST00000631073.2",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "D",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 3691,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3691,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000490355.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3691G>A",
"hgvs_p": "p.Asp1231Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418003.3",
"strand": true,
"transcript": "ENST00000490355.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "D",
"aa_start": 1226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 3679,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3676,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000488444.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3676G>A",
"hgvs_p": "p.Asp1226Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419007.3",
"strand": true,
"transcript": "ENST00000488444.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "D",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 3771,
"cds_end": null,
"cds_length": 3672,
"cds_start": 3655,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000263604.5",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3655G>A",
"hgvs_p": "p.Asp1219Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263604.4",
"strand": true,
"transcript": "ENST00000263604.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "D",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000486577.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3637G>A",
"hgvs_p": "p.Asp1213Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417578.3",
"strand": true,
"transcript": "ENST00000486577.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "D",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": 3652,
"cds_end": null,
"cds_length": 3651,
"cds_start": 3634,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000491806.6",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Asp1212Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419086.3",
"strand": true,
"transcript": "ENST00000491806.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "D",
"aa_start": 1207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7051,
"cdna_start": 3693,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3619,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001272003.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3619G>A",
"hgvs_p": "p.Asp1207Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258932.1",
"strand": true,
"transcript": "NM_001272003.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "D",
"aa_start": 1207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7057,
"cdna_start": 3693,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3619,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000628528.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3619G>A",
"hgvs_p": "p.Asp1207Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486374.1",
"strand": true,
"transcript": "ENST00000628528.2",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "D",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 3684,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3610,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000968545.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3610G>A",
"hgvs_p": "p.Asp1204Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638604.1",
"strand": true,
"transcript": "ENST00000968545.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "D",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 3862,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3595,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000674572.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3595G>A",
"hgvs_p": "p.Asp1199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501742.1",
"strand": true,
"transcript": "ENST00000674572.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "D",
"aa_start": 1197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3589,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000630792.2",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3589G>A",
"hgvs_p": "p.Asp1197Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486486.1",
"strand": true,
"transcript": "ENST00000630792.2",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "D",
"aa_start": 1171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 3595,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3511,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000676421.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3511G>A",
"hgvs_p": "p.Asp1171Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502322.1",
"strand": true,
"transcript": "ENST00000676421.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "D",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 3592,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3502,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000675399.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3502G>A",
"hgvs_p": "p.Asp1168Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501932.1",
"strand": true,
"transcript": "ENST00000675399.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "D",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 3541,
"cds_end": null,
"cds_length": 3456,
"cds_start": 3439,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000675090.1",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3439G>A",
"hgvs_p": "p.Asp1147Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501833.1",
"strand": true,
"transcript": "ENST00000675090.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "D",
"aa_start": 1279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7193,
"cdna_start": 3835,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3835,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_011518878.4",
"gene_hgnc_id": 18865,
"gene_symbol": "KCNT1",
"hgvs_c": "c.3835G>A",
"hgvs_p": "p.Asp1279Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517180.1",
"strand": true,
"transcript": "XM_011518878.4",
"transcript_support_level": null
},
{
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