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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: 11-130070075-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130070075&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 130070075,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001642.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001142276.2",
"protein_id": "NP_001135748.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 751,
"cds_start": 98,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "ENST00000338167.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142276.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000338167.10",
"protein_id": "ENSP00000345444.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 751,
"cds_start": 98,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "NM_001142276.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338167.10"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000263574.9",
"protein_id": "ENSP00000263574.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 763,
"cds_start": 98,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263574.9"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000528499.5",
"protein_id": "ENSP00000435914.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 695,
"cds_start": 98,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528499.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000345598.9",
"protein_id": "ENSP00000263575.6",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 522,
"cds_start": 98,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345598.9"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000969909.1",
"protein_id": "ENSP00000639968.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 785,
"cds_start": 98,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969909.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881676.1",
"protein_id": "ENSP00000551735.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 784,
"cds_start": 98,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 3817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881676.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881675.1",
"protein_id": "ENSP00000551734.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 773,
"cds_start": 98,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881675.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881682.1",
"protein_id": "ENSP00000551741.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 772,
"cds_start": 98,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881682.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881684.1",
"protein_id": "ENSP00000551743.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 766,
"cds_start": 98,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881684.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001642.3",
"protein_id": "NP_001633.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 763,
"cds_start": 98,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001642.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000650012.1",
"protein_id": "ENSP00000497691.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 763,
"cds_start": 98,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650012.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001382526.1",
"protein_id": "NP_001369455.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 761,
"cds_start": 98,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382526.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001382527.1",
"protein_id": "NP_001369456.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 761,
"cds_start": 98,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382527.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001382528.1",
"protein_id": "NP_001369457.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 756,
"cds_start": 98,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382528.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881679.1",
"protein_id": "ENSP00000551738.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 756,
"cds_start": 98,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881679.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001382529.1",
"protein_id": "NP_001369458.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 749,
"cds_start": 98,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382529.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881685.1",
"protein_id": "ENSP00000551744.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 749,
"cds_start": 98,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881685.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881690.1",
"protein_id": "ENSP00000551749.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 739,
"cds_start": 98,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881690.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "NM_001328686.2",
"protein_id": "NP_001315615.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 730,
"cds_start": 98,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328686.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881688.1",
"protein_id": "ENSP00000551747.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 730,
"cds_start": 98,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881688.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser",
"transcript": "ENST00000881689.1",
"protein_id": "ENSP00000551748.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 729,
"cds_start": 98,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 180,
"cdna_end": null,
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"hgvs_c": "n.125+57A>C",
"hgvs_p": null,
"transcript": "ENST00000534001.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000534001.1"
}
],
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"dbsnp": "rs776174946",
"frequency_reference_population": 0.00019195394,
"hom_count_reference_population": 4,
"allele_count_reference_population": 283,
"gnomad_exomes_af": 0.000201872,
"gnomad_genomes_af": 0.000105477,
"gnomad_exomes_ac": 267,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0875629186630249,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.611,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2316,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.587,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001642.3",
"gene_symbol": "APLP2",
"hgnc_id": 598,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.98A>C",
"hgvs_p": "p.Tyr33Ser"
}
],
"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
}