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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: 20-1453037-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1453037&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1453037,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206736.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "NM_016143.5",
"protein_id": "NP_057227.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 370,
"cds_start": 641,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016143.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000216879.9",
"protein_id": "ENSP00000216879.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 370,
"cds_start": 641,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216879.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000926113.1",
"protein_id": "ENSP00000596172.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 389,
"cds_start": 641,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926113.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Arg226His",
"transcript": "ENST00000855884.1",
"protein_id": "ENSP00000525943.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 382,
"cds_start": 677,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855884.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000855889.1",
"protein_id": "ENSP00000525948.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 382,
"cds_start": 641,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855889.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216His",
"transcript": "NM_001206736.2",
"protein_id": "NP_001193665.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 372,
"cds_start": 647,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206736.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216His",
"transcript": "ENST00000476071.5",
"protein_id": "ENSP00000418529.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 372,
"cds_start": 647,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476071.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000855888.1",
"protein_id": "ENSP00000525947.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 368,
"cds_start": 641,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855888.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000855885.1",
"protein_id": "ENSP00000525944.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 364,
"cds_start": 623,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855885.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000855887.1",
"protein_id": "ENSP00000525946.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 352,
"cds_start": 587,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855887.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "NM_018839.5",
"protein_id": "NP_061327.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 339,
"cds_start": 548,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018839.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "ENST00000353088.6",
"protein_id": "ENSP00000338643.2",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 339,
"cds_start": 548,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353088.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000926115.1",
"protein_id": "ENSP00000596174.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 324,
"cds_start": 641,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926115.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000965405.1",
"protein_id": "ENSP00000635464.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 315,
"cds_start": 641,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "XM_011529300.3",
"protein_id": "XP_011527602.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 375,
"cds_start": 656,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529300.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "XM_011529301.3",
"protein_id": "XP_011527603.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 373,
"cds_start": 650,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529301.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "XM_011529302.3",
"protein_id": "XP_011527604.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 322,
"cds_start": 497,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529302.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Arg165His",
"transcript": "XM_047440302.1",
"protein_id": "XP_047296258.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 321,
"cds_start": 494,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440302.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "XM_017027956.2",
"protein_id": "XP_016883445.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 320,
"cds_start": 491,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027956.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163His",
"transcript": "XM_047440303.1",
"protein_id": "XP_047296259.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 319,
"cds_start": 488,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440303.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "XM_017027958.3",
"protein_id": "XP_016883447.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 285,
"cds_start": 386,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027958.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "XM_047440304.1",
"protein_id": "XP_047296260.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 279,
"cds_start": 656,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440304.1"
},
{
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"splice_prediction_selected": "Benign",
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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
}