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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: 11-66261882-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66261882&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66261882,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022822.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "NM_001318734.2",
"protein_id": "NP_001305663.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394067.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318734.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000394067.7",
"protein_id": "ENSP00000377631.2",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318734.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394067.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000316924.9",
"protein_id": "ENSP00000314837.5",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316924.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917341.1",
"protein_id": "ENSP00000587400.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 628,
"cds_start": 369,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917341.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917343.1",
"protein_id": "ENSP00000587402.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 628,
"cds_start": 369,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917343.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000942287.1",
"protein_id": "ENSP00000612346.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 628,
"cds_start": 369,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942287.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000852034.1",
"protein_id": "ENSP00000522093.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 627,
"cds_start": 369,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852034.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "NM_001134775.2",
"protein_id": "NP_001128247.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134775.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "NM_001134776.2",
"protein_id": "NP_001128248.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134776.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "NM_022822.3",
"protein_id": "NP_073733.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022822.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000417856.5",
"protein_id": "ENSP00000399403.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417856.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000852032.1",
"protein_id": "ENSP00000522091.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852032.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000852033.1",
"protein_id": "ENSP00000522092.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852033.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000852035.1",
"protein_id": "ENSP00000522094.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852035.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000852036.1",
"protein_id": "ENSP00000522095.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852036.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917338.1",
"protein_id": "ENSP00000587397.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917338.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917339.1",
"protein_id": "ENSP00000587398.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917339.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917342.1",
"protein_id": "ENSP00000587401.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917342.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917344.1",
"protein_id": "ENSP00000587403.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917344.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000917345.1",
"protein_id": "ENSP00000587404.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917345.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000942285.1",
"protein_id": "ENSP00000612344.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 622,
"cds_start": 369,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942285.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC2",
"gene_hgnc_id": 20716,
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg",
"transcript": "ENST00000942284.1",
"protein_id": "ENSP00000612343.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 621,
"cds_start": 369,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942284.1"
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022822.3",
"gene_symbol": "KLC2",
"hgnc_id": 20716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.369T>G",
"hgvs_p": "p.Ser123Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_186327.1",
"gene_symbol": "KLC2-AS1",
"hgnc_id": 40934,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.893A>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000533576.1",
"gene_symbol": "ENSG00000254461",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-48A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}