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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: 9-128536414-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128536414&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128536414,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001411013.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "NM_001003722.2",
"protein_id": "NP_001003722.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 698,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309971.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003722.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "ENST00000309971.9",
"protein_id": "ENSP00000308622.5",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 698,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003722.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309971.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "ENST00000372770.4",
"protein_id": "ENSP00000361856.4",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 659,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372770.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588His",
"transcript": "ENST00000898507.1",
"protein_id": "ENSP00000568566.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 717,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898507.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1736G>A",
"hgvs_p": "p.Arg579His",
"transcript": "ENST00000898511.1",
"protein_id": "ENSP00000568570.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 708,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898511.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His",
"transcript": "NM_001411013.1",
"protein_id": "NP_001397942.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 707,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411013.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His",
"transcript": "ENST00000683748.1",
"protein_id": "ENSP00000507377.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 707,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683748.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "ENST00000961293.1",
"protein_id": "ENSP00000631352.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 703,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961293.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Arg568His",
"transcript": "ENST00000898506.1",
"protein_id": "ENSP00000568565.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 697,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898506.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Arg568His",
"transcript": "ENST00000961294.1",
"protein_id": "ENSP00000631353.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 697,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961294.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1673G>A",
"hgvs_p": "p.Arg558His",
"transcript": "ENST00000937195.1",
"protein_id": "ENSP00000607254.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 687,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937195.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "ENST00000684331.1",
"protein_id": "ENSP00000507431.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 680,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684331.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Arg541His",
"transcript": "ENST00000898508.1",
"protein_id": "ENSP00000568567.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 670,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898508.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Arg541His",
"transcript": "ENST00000961296.1",
"protein_id": "ENSP00000631355.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 670,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961296.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "ENST00000684314.1",
"protein_id": "ENSP00000507700.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 663,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684314.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "ENST00000898503.1",
"protein_id": "ENSP00000568562.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 661,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898503.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>A",
"hgvs_p": "p.Arg569His",
"transcript": "NM_001499.2",
"protein_id": "NP_001490.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 659,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001499.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508His",
"transcript": "ENST00000961298.1",
"protein_id": "ENSP00000631357.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 637,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961298.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504His",
"transcript": "ENST00000961297.1",
"protein_id": "ENSP00000631356.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 633,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961297.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498His",
"transcript": "ENST00000684646.1",
"protein_id": "ENSP00000507723.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 627,
"cds_start": 1493,
"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": "ENST00000684646.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His",
"transcript": "ENST00000898505.1",
"protein_id": "ENSP00000568564.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 624,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898505.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467His",
"transcript": "ENST00000961295.1",
"protein_id": "ENSP00000631354.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 596,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NR_188457.1",
"gene_symbol": "LOC101929270",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.481+413C>T",
"hgvs_p": null
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000434999.4",
"gene_symbol": "ENSG00000228395",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.562+413C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Lethal arthrogryposis-anterior horn cell disease syndrome,Lethal congenital contractural syndrome Finnish type,Lethal congenital contracture syndrome 1,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:4",
"phenotype_combined": "Lethal congenital contracture syndrome 1|Lethal arthrogryposis-anterior horn cell disease syndrome|Inborn genetic diseases|not provided|Lethal congenital contractural syndrome Finnish type|Lethal arthrogryposis-anterior horn cell disease syndrome;Lethal congenital contracture syndrome 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}