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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: 1-155256676-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155256676&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155256676,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005698.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "NM_005698.4",
"protein_id": "NP_005689.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 347,
"cds_start": 895,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "ENST00000302631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "ENST00000302631.8",
"protein_id": "ENSP00000307275.3",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 347,
"cds_start": 895,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "NM_005698.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000355379.3",
"protein_id": "ENSP00000347540.3",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 321,
"cds_start": 817,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "NM_001438465.1",
"protein_id": "NP_001425394.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 310,
"cds_start": 895,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "ENST00000714218.1",
"protein_id": "ENSP00000519501.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 310,
"cds_start": 895,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "NM_001438466.1",
"protein_id": "NP_001425395.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 309,
"cds_start": 895,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "NM_001438470.1",
"protein_id": "NP_001425399.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 284,
"cds_start": 817,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "NM_001438464.1",
"protein_id": "NP_001425393.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 333,
"cds_start": 853,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "ENST00000714216.1",
"protein_id": "ENSP00000519499.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 333,
"cds_start": 853,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "NM_052837.3",
"protein_id": "NP_443069.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 321,
"cds_start": 817,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Trp",
"transcript": "NM_001438467.1",
"protein_id": "NP_001425396.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 307,
"cds_start": 775,
"cds_end": null,
"cds_length": 924,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Trp",
"transcript": "ENST00000714220.1",
"protein_id": "ENSP00000519503.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 307,
"cds_start": 775,
"cds_end": null,
"cds_length": 924,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Trp",
"transcript": "NM_001438468.1",
"protein_id": "NP_001425397.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 306,
"cds_start": 772,
"cds_end": null,
"cds_length": 921,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Trp",
"transcript": "ENST00000714213.1",
"protein_id": "ENSP00000519495.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 300,
"cds_start": 754,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.*18C>T",
"hgvs_p": null,
"transcript": "NM_001438469.1",
"protein_id": "NP_001425398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.*18C>T",
"hgvs_p": null,
"transcript": "ENST00000472397.6",
"protein_id": "ENSP00000519504.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
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"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "NM_001438471.1",
"protein_id": "NP_001425400.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 280,
"cds_start": 694,
"cds_end": null,
"cds_length": 843,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Trp",
"transcript": "ENST00000714219.1",
"protein_id": "ENSP00000519502.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 280,
"cds_start": 694,
"cds_end": null,
"cds_length": 843,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.*18C>T",
"hgvs_p": null,
"transcript": "NM_001438472.1",
"protein_id": "NP_001425401.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 274,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Trp",
"transcript": "NM_001438473.1",
"protein_id": "NP_001425402.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 205,
"cds_start": 469,
"cds_end": null,
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"cdna_start": 1042,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.*18C>T",
"hgvs_p": null,
"transcript": "NM_001438474.1",
"protein_id": "NP_001425403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.*18C>T",
"hgvs_p": null,
"transcript": "ENST00000478737.6",
"protein_id": "ENSP00000519482.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
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{
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"verdict": "Uncertain_significance",
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{
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}