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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: 11-104998899-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=104998899&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 104998899,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001136112.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Cys361Ser",
"transcript": "NM_004347.5",
"protein_id": "NP_004338.3",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 434,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260315.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004347.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Cys361Ser",
"transcript": "ENST00000260315.8",
"protein_id": "ENSP00000260315.3",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 434,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004347.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260315.8"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1121G>C",
"hgvs_p": "p.Cys374Ser",
"transcript": "NM_001136112.3",
"protein_id": "NP_001129584.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 447,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136112.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1121G>C",
"hgvs_p": "p.Cys374Ser",
"transcript": "ENST00000393141.6",
"protein_id": "ENSP00000376849.2",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 447,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393141.6"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1121G>C",
"hgvs_p": "p.Cys374Ser",
"transcript": "ENST00000526056.5",
"protein_id": "ENSP00000436877.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 447,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526056.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Cys361Ser",
"transcript": "ENST00000861026.1",
"protein_id": "ENSP00000531085.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 434,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861026.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1079G>C",
"hgvs_p": "p.Cys360Ser",
"transcript": "ENST00000861023.1",
"protein_id": "ENSP00000531082.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 433,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861023.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Cys348Ser",
"transcript": "ENST00000861025.1",
"protein_id": "ENSP00000531084.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 421,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861025.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Cys308Ser",
"transcript": "ENST00000958375.1",
"protein_id": "ENSP00000628434.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 381,
"cds_start": 923,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958375.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Cys303Ser",
"transcript": "NM_001136109.3",
"protein_id": "NP_001129581.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 376,
"cds_start": 908,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136109.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Cys303Ser",
"transcript": "ENST00000444749.6",
"protein_id": "ENSP00000388365.2",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 376,
"cds_start": 908,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444749.6"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Cys302Ser",
"transcript": "ENST00000861027.1",
"protein_id": "ENSP00000531086.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 375,
"cds_start": 905,
"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": "ENST00000861027.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Cys277Ser",
"transcript": "ENST00000861024.1",
"protein_id": "ENSP00000531083.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 350,
"cds_start": 830,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861024.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Cys276Ser",
"transcript": "ENST00000958374.1",
"protein_id": "ENSP00000628433.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 349,
"cds_start": 827,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958374.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Cys219Ser",
"transcript": "NM_001136110.3",
"protein_id": "NP_001129582.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 292,
"cds_start": 656,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136110.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Cys219Ser",
"transcript": "ENST00000418434.5",
"protein_id": "ENSP00000398130.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 292,
"cds_start": 656,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418434.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Cys219Ser",
"transcript": "ENST00000531367.5",
"protein_id": "ENSP00000434471.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 292,
"cds_start": 656,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531367.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "n.128G>C",
"hgvs_p": null,
"transcript": "ENST00000438448.6",
"protein_id": "ENSP00000396053.2",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000438448.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "n.*471G>C",
"hgvs_p": null,
"transcript": "ENST00000456200.5",
"protein_id": "ENSP00000408455.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000456200.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "n.830G>C",
"hgvs_p": null,
"transcript": "NR_024239.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_024239.3"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "n.578G>C",
"hgvs_p": null,
"transcript": "NR_036562.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_036562.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"hgvs_c": "n.*471G>C",
"hgvs_p": null,
"transcript": "ENST00000456200.5",
"protein_id": "ENSP00000408455.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000456200.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303891",
"gene_hgnc_id": null,
"hgvs_c": "n.566-5932C>G",
"hgvs_p": null,
"transcript": "ENST00000797905.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000797905.1"
}
],
"gene_symbol": "CASP5",
"gene_hgnc_id": 1506,
"dbsnp": "rs573042092",
"frequency_reference_population": 0.0000075280486,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752805,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5537792444229126,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.628,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.024,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136112.3",
"gene_symbol": "CASP5",
"hgnc_id": 1506,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1121G>C",
"hgvs_p": "p.Cys374Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000797905.1",
"gene_symbol": "ENSG00000303891",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.566-5932C>G",
"hgvs_p": null
}
],
"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
}