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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: 21-25891790-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25891790&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 25891790,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000484.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Met",
"transcript": "NM_000484.4",
"protein_id": "NP_000475.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 770,
"cds_start": 2143,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Met",
"transcript": "ENST00000346798.8",
"protein_id": "ENSP00000284981.4",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 770,
"cds_start": 2143,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Val696Met",
"transcript": "ENST00000357903.7",
"protein_id": "ENSP00000350578.3",
"transcript_support_level": 1,
"aa_start": 696,
"aa_end": null,
"aa_length": 751,
"cds_start": 2086,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1975G>A",
"hgvs_p": "p.Val659Met",
"transcript": "ENST00000439274.6",
"protein_id": "ENSP00000398879.2",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 714,
"cds_start": 1975,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Val640Met",
"transcript": "ENST00000348990.9",
"protein_id": "ENSP00000345463.5",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 695,
"cds_start": 1918,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Val584Met",
"transcript": "ENST00000354192.7",
"protein_id": "ENSP00000346129.3",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 639,
"cds_start": 1750,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.490G>A",
"hgvs_p": null,
"transcript": "ENST00000464867.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464867.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2134G>A",
"hgvs_p": "p.Val712Met",
"transcript": "ENST00000932837.1",
"protein_id": "ENSP00000602896.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 767,
"cds_start": 2134,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2119G>A",
"hgvs_p": "p.Val707Met",
"transcript": "ENST00000872535.1",
"protein_id": "ENSP00000542594.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 762,
"cds_start": 2119,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Val697Met",
"transcript": "NM_001204301.2",
"protein_id": "NP_001191230.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 752,
"cds_start": 2089,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Val697Met",
"transcript": "ENST00000358918.7",
"protein_id": "ENSP00000351796.3",
"transcript_support_level": 5,
"aa_start": 697,
"aa_end": null,
"aa_length": 752,
"cds_start": 2089,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Val696Met",
"transcript": "NM_201413.3",
"protein_id": "NP_958816.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 751,
"cds_start": 2086,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2077G>A",
"hgvs_p": "p.Val693Met",
"transcript": "ENST00000872530.1",
"protein_id": "ENSP00000542589.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 748,
"cds_start": 2077,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Met",
"transcript": "ENST00000965081.1",
"protein_id": "ENSP00000635140.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 747,
"cds_start": 2074,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Val691Met",
"transcript": "NM_001136016.3",
"protein_id": "NP_001129488.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 746,
"cds_start": 2071,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Val691Met",
"transcript": "ENST00000440126.7",
"protein_id": "ENSP00000387483.2",
"transcript_support_level": 2,
"aa_start": 691,
"aa_end": null,
"aa_length": 746,
"cds_start": 2071,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Val690Met",
"transcript": "ENST00000872526.1",
"protein_id": "ENSP00000542585.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 745,
"cds_start": 2068,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Val678Met",
"transcript": "NM_001204302.2",
"protein_id": "NP_001191231.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 733,
"cds_start": 2032,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Val678Met",
"transcript": "ENST00000872524.1",
"protein_id": "ENSP00000542583.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 733,
"cds_start": 2032,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Val672Met",
"transcript": "ENST00000965080.1",
"protein_id": "ENSP00000635139.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 727,
"cds_start": 2014,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2011G>A",
"hgvs_p": "p.Val671Met",
"transcript": "ENST00000872529.1",
"protein_id": "ENSP00000542588.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 726,
"cds_start": 2011,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1975G>A",
"hgvs_p": "p.Val659Met",
"transcript": "NM_001136130.3",
"protein_id": "NP_001129602.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 714,
"cds_start": 1975,
"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": "NM_001136130.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1 O:1",
"phenotype_combined": "not provided|Alzheimer disease|Alzheimer disease type 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}