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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: 9-70536087-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70536087&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 70536087,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366147.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.5026C>T",
"hgvs_p": "p.Arg1676Trp",
"transcript": "NM_001366145.2",
"protein_id": "NP_001353074.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1719,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000677713.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366145.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.5026C>T",
"hgvs_p": "p.Arg1676Trp",
"transcript": "ENST00000677713.2",
"protein_id": "ENSP00000503830.2",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1719,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366145.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677713.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4990C>T",
"hgvs_p": "p.Arg1664Trp",
"transcript": "ENST00000377110.9",
"protein_id": "ENSP00000366314.4",
"transcript_support_level": 1,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377110.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3956-636C>T",
"hgvs_p": null,
"transcript": "ENST00000377111.8",
"protein_id": "ENSP00000366315.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1325,
"cds_start": null,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377111.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.5101C>T",
"hgvs_p": "p.Arg1701Trp",
"transcript": "NM_001366147.2",
"protein_id": "NP_001353076.1",
"transcript_support_level": null,
"aa_start": 1701,
"aa_end": null,
"aa_length": 1744,
"cds_start": 5101,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366147.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.5002C>T",
"hgvs_p": "p.Arg1668Trp",
"transcript": "ENST00000357533.7",
"protein_id": "ENSP00000350140.2",
"transcript_support_level": 5,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1711,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357533.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4996C>T",
"hgvs_p": "p.Arg1666Trp",
"transcript": "NM_001366141.2",
"protein_id": "NP_001353070.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4996,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366141.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4996C>T",
"hgvs_p": "p.Arg1666Trp",
"transcript": "NM_001366149.2",
"protein_id": "NP_001353078.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4996,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366149.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4990C>T",
"hgvs_p": "p.Arg1664Trp",
"transcript": "NM_001007471.4",
"protein_id": "NP_001007472.2",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007471.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4924C>T",
"hgvs_p": "p.Arg1642Trp",
"transcript": "ENST00000707140.1",
"protein_id": "ENSP00000516762.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4924,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707140.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4606C>T",
"hgvs_p": "p.Arg1536Trp",
"transcript": "NM_206946.5",
"protein_id": "NP_996829.3",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4606,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206946.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4606C>T",
"hgvs_p": "p.Arg1536Trp",
"transcript": "ENST00000396292.8",
"protein_id": "ENSP00000379587.4",
"transcript_support_level": 5,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4606,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396292.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4576C>T",
"hgvs_p": "p.Arg1526Trp",
"transcript": "NM_206947.5",
"protein_id": "NP_996830.3",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4576,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206947.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4576C>T",
"hgvs_p": "p.Arg1526Trp",
"transcript": "ENST00000358082.7",
"protein_id": "ENSP00000350791.3",
"transcript_support_level": 5,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4576,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358082.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4576C>T",
"hgvs_p": "p.Arg1526Trp",
"transcript": "ENST00000360823.6",
"protein_id": "ENSP00000354066.2",
"transcript_support_level": 5,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4576,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360823.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Arg1523Trp",
"transcript": "NM_024971.7",
"protein_id": "NP_079247.5",
"transcript_support_level": null,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4567,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024971.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Arg1523Trp",
"transcript": "ENST00000377105.5",
"protein_id": "ENSP00000366309.1",
"transcript_support_level": 5,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4567,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377105.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Arg1523Trp",
"transcript": "ENST00000396285.5",
"protein_id": "ENSP00000379581.1",
"transcript_support_level": 5,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4567,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396285.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4567C>T",
"hgvs_p": "p.Arg1523Trp",
"transcript": "ENST00000408909.6",
"protein_id": "ENSP00000386127.2",
"transcript_support_level": 5,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4567,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408909.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4537C>T",
"hgvs_p": "p.Arg1513Trp",
"transcript": "NM_206945.5",
"protein_id": "NP_996828.3",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1556,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206945.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4537C>T",
"hgvs_p": "p.Arg1513Trp",
"transcript": "ENST00000396280.9",
"protein_id": "ENSP00000379576.5",
"transcript_support_level": 5,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1556,
"cds_start": 4537,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396280.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4531C>T",
"hgvs_p": "p.Arg1511Trp",
"transcript": "NM_020952.6",
"protein_id": "NP_066003.3",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4531,
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{
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Inborn genetic diseases|not specified",
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"custom_annotations": null
}
],
"message": null
}