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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: 21-25975071-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25975071&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 25975071,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000484.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "NM_000484.4",
"protein_id": "NP_000475.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 770,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346798.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000484.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "ENST00000346798.8",
"protein_id": "ENSP00000284981.4",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 770,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000484.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346798.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "ENST00000357903.7",
"protein_id": "ENSP00000350578.3",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 751,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357903.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1289G>T",
"hgvs_p": "p.Arg430Leu",
"transcript": "ENST00000439274.6",
"protein_id": "ENSP00000398879.2",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 714,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439274.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1232G>T",
"hgvs_p": "p.Arg411Leu",
"transcript": "ENST00000348990.9",
"protein_id": "ENSP00000345463.5",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 695,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348990.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Arg355Leu",
"transcript": "ENST00000354192.7",
"protein_id": "ENSP00000346129.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 639,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354192.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000448850.5",
"protein_id": "ENSP00000396923.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 484,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448850.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "ENST00000872535.1",
"protein_id": "ENSP00000542594.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 762,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872535.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1448G>T",
"hgvs_p": "p.Arg483Leu",
"transcript": "ENST00000932837.1",
"protein_id": "ENSP00000602896.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 767,
"cds_start": 1448,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932837.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "NM_001204301.2",
"protein_id": "NP_001191230.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 752,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204301.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1457G>T",
"hgvs_p": "p.Arg486Leu",
"transcript": "ENST00000358918.7",
"protein_id": "ENSP00000351796.3",
"transcript_support_level": 5,
"aa_start": 486,
"aa_end": null,
"aa_length": 752,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358918.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "NM_201413.3",
"protein_id": "NP_958816.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 751,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201413.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1391G>T",
"hgvs_p": "p.Arg464Leu",
"transcript": "ENST00000872530.1",
"protein_id": "ENSP00000542589.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 748,
"cds_start": 1391,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872530.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1388G>T",
"hgvs_p": "p.Arg463Leu",
"transcript": "ENST00000965081.1",
"protein_id": "ENSP00000635140.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 747,
"cds_start": 1388,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965081.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Arg462Leu",
"transcript": "NM_001136016.3",
"protein_id": "NP_001129488.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 746,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136016.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1385G>T",
"hgvs_p": "p.Arg462Leu",
"transcript": "ENST00000440126.7",
"protein_id": "ENSP00000387483.2",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 746,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440126.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000872526.1",
"protein_id": "ENSP00000542585.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 745,
"cds_start": 1382,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872526.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "NM_001204302.2",
"protein_id": "NP_001191231.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 733,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204302.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "ENST00000872524.1",
"protein_id": "ENSP00000542583.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 733,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872524.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000965080.1",
"protein_id": "ENSP00000635139.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 727,
"cds_start": 1382,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965080.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1325G>T",
"hgvs_p": "p.Arg442Leu",
"transcript": "ENST00000872529.1",
"protein_id": "ENSP00000542588.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 726,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872529.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}