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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: 21-25897626-TC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25897626&ref=TC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 25897626,
"ref": "TC",
"alt": "GA",
"effect": "missense_variant",
"transcript": "ENST00000346798.8",
"consequences": [
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2010_2011delGAinsTC",
"hgvs_p": "p.LysMet670AsnLeu",
"transcript": "NM_000484.4",
"protein_id": "NP_000475.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 770,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": "ENST00000346798.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.2010_2011delGAinsTC",
"hgvs_p": "p.LysMet670AsnLeu",
"transcript": "ENST00000346798.8",
"protein_id": "ENSP00000284981.4",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 770,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": "NM_000484.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1953_1954delGAinsTC",
"hgvs_p": "p.LysMet651AsnLeu",
"transcript": "ENST00000357903.7",
"protein_id": "ENSP00000350578.3",
"transcript_support_level": 1,
"aa_start": 651,
"aa_end": null,
"aa_length": 751,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1842_1843delGAinsTC",
"hgvs_p": "p.LysMet614AsnLeu",
"transcript": "ENST00000439274.6",
"protein_id": "ENSP00000398879.2",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 714,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1785_1786delGAinsTC",
"hgvs_p": "p.LysMet595AsnLeu",
"transcript": "ENST00000348990.9",
"protein_id": "ENSP00000345463.5",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 695,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1617_1618delGAinsTC",
"hgvs_p": "p.LysMet539AsnLeu",
"transcript": "ENST00000354192.7",
"protein_id": "ENSP00000346129.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 639,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.357_358delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000464867.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1956_1957delGAinsTC",
"hgvs_p": "p.LysMet652AsnLeu",
"transcript": "NM_001204301.2",
"protein_id": "NP_001191230.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 752,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1956_1957delGAinsTC",
"hgvs_p": "p.LysMet652AsnLeu",
"transcript": "ENST00000358918.7",
"protein_id": "ENSP00000351796.3",
"transcript_support_level": 5,
"aa_start": 652,
"aa_end": null,
"aa_length": 752,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2004,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1953_1954delGAinsTC",
"hgvs_p": "p.LysMet651AsnLeu",
"transcript": "NM_201413.3",
"protein_id": "NP_958816.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 751,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1938_1939delGAinsTC",
"hgvs_p": "p.LysMet646AsnLeu",
"transcript": "NM_001136016.3",
"protein_id": "NP_001129488.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 746,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1938_1939delGAinsTC",
"hgvs_p": "p.LysMet646AsnLeu",
"transcript": "ENST00000440126.7",
"protein_id": "ENSP00000387483.2",
"transcript_support_level": 2,
"aa_start": 646,
"aa_end": null,
"aa_length": 746,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1899_1900delGAinsTC",
"hgvs_p": "p.LysMet633AsnLeu",
"transcript": "NM_001204302.2",
"protein_id": "NP_001191231.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 733,
"cds_start": 1899,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1842_1843delGAinsTC",
"hgvs_p": "p.LysMet614AsnLeu",
"transcript": "NM_001136130.3",
"protein_id": "NP_001129602.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 714,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1842_1843delGAinsTC",
"hgvs_p": "p.LysMet614AsnLeu",
"transcript": "NM_001385253.1",
"protein_id": "NP_001372182.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 714,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1785_1786delGAinsTC",
"hgvs_p": "p.LysMet595AsnLeu",
"transcript": "NM_201414.3",
"protein_id": "NP_958817.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 695,
"cds_start": 1785,
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"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1731_1732delGAinsTC",
"hgvs_p": "p.LysMet577AsnLeu",
"transcript": "NM_001204303.2",
"protein_id": "NP_001191232.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 677,
"cds_start": 1731,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1680_1681delGAinsTC",
"hgvs_p": "p.LysMet560AsnLeu",
"transcript": "NM_001136131.3",
"protein_id": "NP_001129603.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 660,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1680_1681delGAinsTC",
"hgvs_p": "p.LysMet560AsnLeu",
"transcript": "ENST00000359726.7",
"protein_id": "ENSP00000352760.4",
"transcript_support_level": 2,
"aa_start": 560,
"aa_end": null,
"aa_length": 660,
"cds_start": 1680,
"cds_end": null,
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"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KM",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.1617_1618delGAinsTC",
"hgvs_p": "p.LysMet539AsnLeu",
"transcript": "NM_001136129.3",
"protein_id": "NP_001129601.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 639,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.1977_1978delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000707132.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.407_408delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000707133.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.676_677delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000707134.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"dbsnp": "rs281865161",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.726,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000346798.8",
"gene_symbol": "APP",
"hgnc_id": 620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2010_2011delGAinsTC",
"hgvs_p": "p.LysMet670AsnLeu"
}
],
"clinvar_disease": "APP-related disorder,Alzheimer disease,Alzheimer disease type 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:2",
"phenotype_combined": "Alzheimer disease|not provided|Alzheimer disease type 1|APP-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}