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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: 20-63413478-GC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63413478&ref=GC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63413478,
"ref": "GC",
"alt": "TT",
"effect": "missense_variant",
"transcript": "NM_001382235.1",
"consequences": [
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1734_1735delGCinsAA",
"hgvs_p": "p.MetLeu578IleMet",
"transcript": "NM_172107.4",
"protein_id": "NP_742105.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 872,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359125.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172107.4"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1734_1735delGCinsAA",
"hgvs_p": "p.MetLeu578IleMet",
"transcript": "ENST00000359125.7",
"protein_id": "ENSP00000352035.2",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 872,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172107.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359125.7"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1680_1681delGCinsAA",
"hgvs_p": "p.MetLeu560IleMet",
"transcript": "ENST00000626839.2",
"protein_id": "ENSP00000486706.1",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 854,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626839.2"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1641_1642delGCinsAA",
"hgvs_p": "p.MetLeu547IleMet",
"transcript": "ENST00000344462.8",
"protein_id": "ENSP00000339611.4",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 841,
"cds_start": 1641,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344462.8"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1680_1681delGCinsAA",
"hgvs_p": "p.MetLeu560IleMet",
"transcript": "NM_001382235.1",
"protein_id": "NP_001369164.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 890,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382235.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1680_1681delGCinsAA",
"hgvs_p": "p.MetLeu560IleMet",
"transcript": "ENST00000706989.1",
"protein_id": "ENSP00000516702.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 890,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706989.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1677_1678delGCinsAA",
"hgvs_p": "p.MetLeu559IleMet",
"transcript": "ENST00000852160.1",
"protein_id": "ENSP00000522219.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 858,
"cds_start": 1677,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852160.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1650_1651delGCinsAA",
"hgvs_p": "p.MetLeu550IleMet",
"transcript": "ENST00000921679.1",
"protein_id": "ENSP00000591738.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 858,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921679.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1680_1681delGCinsAA",
"hgvs_p": "p.MetLeu560IleMet",
"transcript": "NM_172106.3",
"protein_id": "NP_742104.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 854,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172106.3"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1677_1678delGCinsAA",
"hgvs_p": "p.MetLeu559IleMet",
"transcript": "NM_001439003.1",
"protein_id": "NP_001425932.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 853,
"cds_start": 1677,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439003.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1677_1678delGCinsAA",
"hgvs_p": "p.MetLeu559IleMet",
"transcript": "ENST00000852159.1",
"protein_id": "ENSP00000522218.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 853,
"cds_start": 1677,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852159.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1650_1651delGCinsAA",
"hgvs_p": "p.MetLeu550IleMet",
"transcript": "NM_004518.6",
"protein_id": "NP_004509.2",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 844,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004518.6"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1650_1651delGCinsAA",
"hgvs_p": "p.MetLeu550IleMet",
"transcript": "ENST00000360480.7",
"protein_id": "ENSP00000353668.3",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 844,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360480.7"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1647_1648delGCinsAA",
"hgvs_p": "p.MetLeu549IleMet",
"transcript": "NM_001439004.1",
"protein_id": "NP_001425933.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1647,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439004.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1647_1648delGCinsAA",
"hgvs_p": "p.MetLeu549IleMet",
"transcript": "ENST00000627221.3",
"protein_id": "ENSP00000487469.2",
"transcript_support_level": 5,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1647,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627221.3"
},
{
"aa_ref": "ML",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1641_1642delGCinsAA",
"hgvs_p": "p.MetLeu547IleMet",
"transcript": "NM_172108.5",
"protein_id": "NP_742106.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 841,
"cds_start": 1641,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172108.5"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1614_1615delGCinsAA",
"hgvs_p": "p.MetLeu538IleMet",
"transcript": "ENST00000713605.1",
"protein_id": "ENSP00000518901.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 832,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713605.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1524_1525delGCinsAA",
"hgvs_p": "p.MetLeu508IleMet",
"transcript": "ENST00000921680.1",
"protein_id": "ENSP00000591739.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 802,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921680.1"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1650_1651delGCinsAA",
"hgvs_p": "p.MetLeu550IleMet",
"transcript": "ENST00000370224.5",
"protein_id": "ENSP00000359244.2",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 766,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370224.5"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1614_1615delGCinsAA",
"hgvs_p": "p.MetLeu538IleMet",
"transcript": "ENST00000625514.2",
"protein_id": "ENSP00000486040.1",
"transcript_support_level": 5,
"aa_start": 538,
"aa_end": null,
"aa_length": 754,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625514.2"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.1650_1651delGCinsAA",
"hgvs_p": "p.MetLeu550IleMet",
"transcript": "ENST00000629241.2",
"protein_id": "ENSP00000487142.1",
"transcript_support_level": 5,
"aa_start": 550,
"aa_end": null,
"aa_length": 730,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629241.2"
},
{
"aa_ref": "ML",
"aa_alt": "IM",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
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{
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"PP2",
"PP3",
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],
"verdict": "Likely_pathogenic",
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{
"score": 3,
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"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": " 7,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 7",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}