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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: 9-135778780-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135778780&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135778780,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020822.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2687T>A",
"hgvs_p": "p.Met896Lys",
"transcript": "NM_020822.3",
"protein_id": "NP_065873.2",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371757.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020822.3"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2687T>A",
"hgvs_p": "p.Met896Lys",
"transcript": "ENST00000371757.7",
"protein_id": "ENSP00000360822.2",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020822.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371757.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*2297T>A",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460750.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*2297T>A",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460750.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2687T>A",
"hgvs_p": "p.Met896Lys",
"transcript": "ENST00000487664.5",
"protein_id": "ENSP00000417851.2",
"transcript_support_level": 5,
"aa_start": 896,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487664.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2630T>A",
"hgvs_p": "p.Met877Lys",
"transcript": "ENST00000631073.2",
"protein_id": "ENSP00000486130.1",
"transcript_support_level": 5,
"aa_start": 877,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000631073.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2624T>A",
"hgvs_p": "p.Met875Lys",
"transcript": "ENST00000490355.6",
"protein_id": "ENSP00000418003.3",
"transcript_support_level": 5,
"aa_start": 875,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2624,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490355.6"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2630T>A",
"hgvs_p": "p.Met877Lys",
"transcript": "ENST00000488444.6",
"protein_id": "ENSP00000419007.3",
"transcript_support_level": 5,
"aa_start": 877,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488444.6"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2588T>A",
"hgvs_p": "p.Met863Lys",
"transcript": "ENST00000263604.5",
"protein_id": "ENSP00000263604.4",
"transcript_support_level": 5,
"aa_start": 863,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2588,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263604.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2570T>A",
"hgvs_p": "p.Met857Lys",
"transcript": "ENST00000486577.6",
"protein_id": "ENSP00000417578.3",
"transcript_support_level": 5,
"aa_start": 857,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486577.6"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2630T>A",
"hgvs_p": "p.Met877Lys",
"transcript": "ENST00000491806.6",
"protein_id": "ENSP00000419086.3",
"transcript_support_level": 5,
"aa_start": 877,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491806.6"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2552T>A",
"hgvs_p": "p.Met851Lys",
"transcript": "NM_001272003.2",
"protein_id": "NP_001258932.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2552,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272003.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2552T>A",
"hgvs_p": "p.Met851Lys",
"transcript": "ENST00000628528.2",
"protein_id": "ENSP00000486374.1",
"transcript_support_level": 2,
"aa_start": 851,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2552,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628528.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2543T>A",
"hgvs_p": "p.Met848Lys",
"transcript": "ENST00000968545.1",
"protein_id": "ENSP00000638604.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968545.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2528T>A",
"hgvs_p": "p.Met843Lys",
"transcript": "ENST00000674572.1",
"protein_id": "ENSP00000501742.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2528,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674572.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2522T>A",
"hgvs_p": "p.Met841Lys",
"transcript": "ENST00000630792.2",
"protein_id": "ENSP00000486486.1",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 1201,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630792.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2444T>A",
"hgvs_p": "p.Met815Lys",
"transcript": "ENST00000676421.1",
"protein_id": "ENSP00000502322.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2444,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676421.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2435T>A",
"hgvs_p": "p.Met812Lys",
"transcript": "ENST00000675399.1",
"protein_id": "ENSP00000501932.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2435,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675399.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2435T>A",
"hgvs_p": "p.Met812Lys",
"transcript": "ENST00000675090.1",
"protein_id": "ENSP00000501833.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2435,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675090.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2831T>A",
"hgvs_p": "p.Met944Lys",
"transcript": "XM_011518878.4",
"protein_id": "XP_011517180.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1283,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518878.4"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2822T>A",
"hgvs_p": "p.Met941Lys",
"transcript": "XM_011518879.4",
"protein_id": "XP_011517181.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1280,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518879.4"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2621T>A",
"hgvs_p": "p.Met874Lys",
"transcript": "XM_017014931.2",
"protein_id": "XP_016870420.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2621,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Developmental and epileptic encephalopathy, 14;Autosomal dominant nocturnal frontal lobe epilepsy 5|Developmental and epileptic encephalopathy, 14",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}