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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: 10-86679433-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86679433&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86679433,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001171610.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 727,
"cds_start": 160,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007078.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 727,
"cds_start": 160,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361373.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "NM_001368067.1",
"protein_id": "NP_001354996.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 283,
"cds_start": 160,
"cds_end": null,
"cds_length": 852,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": "ENST00000263066.11",
"biotype": "protein_coding",
"feature": "NM_001368067.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000263066.11",
"protein_id": "ENSP00000263066.7",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 283,
"cds_start": 160,
"cds_end": null,
"cds_length": 852,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": "NM_001368067.1",
"biotype": "protein_coding",
"feature": "ENST00000263066.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289258",
"gene_hgnc_id": null,
"hgvs_c": "c.1669G>C",
"hgvs_p": "p.Gly557Arg",
"transcript": "ENST00000443292.2",
"protein_id": "ENSP00000393132.2",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 833,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443292.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000372056.8",
"protein_id": "ENSP00000361126.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 398,
"cds_start": 160,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372056.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000623007.3",
"protein_id": "ENSP00000485389.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 330,
"cds_start": 160,
"cds_end": null,
"cds_length": 993,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623007.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000372066.8",
"protein_id": "ENSP00000361136.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 283,
"cds_start": 160,
"cds_end": null,
"cds_length": 852,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372066.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000945680.1",
"protein_id": "ENSP00000615739.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 795,
"cds_start": 160,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945680.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871464.1",
"protein_id": "ENSP00000541523.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 774,
"cds_start": 160,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871464.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871462.1",
"protein_id": "ENSP00000541521.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 743,
"cds_start": 160,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871462.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 732,
"cds_start": 160,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171610.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 732,
"cds_start": 160,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623056.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871441.1",
"protein_id": "ENSP00000541500.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 732,
"cds_start": 160,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871441.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871460.1",
"protein_id": "ENSP00000541519.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 732,
"cds_start": 160,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871460.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871439.1",
"protein_id": "ENSP00000541498.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 727,
"cds_start": 160,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871439.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871467.1",
"protein_id": "ENSP00000541526.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 727,
"cds_start": 160,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871467.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871456.1",
"protein_id": "ENSP00000541515.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 711,
"cds_start": 160,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871456.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871458.1",
"protein_id": "ENSP00000541517.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 710,
"cds_start": 160,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871458.1"
},
{
"aa_ref": "G",
"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": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000871454.1",
"protein_id": "ENSP00000541513.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 696,
"cds_start": 160,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871454.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 680,
"cds_start": 160,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368066.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 680,
"cds_start": 160,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 225,
"cdna_end": null,
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{
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"verdict": "Likely_pathogenic",
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{
"score": 6,
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"verdict": "Likely_pathogenic",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Myofibrillar myopathy 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}