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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: 8-125044010-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125044010&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 125044010,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014846.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "NM_014846.4",
"protein_id": "NP_055661.3",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318410.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014846.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "ENST00000318410.12",
"protein_id": "ENSP00000318016.7",
"transcript_support_level": 1,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014846.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318410.12"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2800C>T",
"hgvs_p": "p.Pro934Ser",
"transcript": "ENST00000920325.1",
"protein_id": "ENSP00000590384.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920325.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "ENST00000890504.1",
"protein_id": "ENSP00000560563.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890504.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "ENST00000890505.1",
"protein_id": "ENSP00000560564.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890505.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "ENST00000920326.1",
"protein_id": "ENSP00000590385.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920326.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "ENST00000965243.1",
"protein_id": "ENSP00000635302.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965243.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2731C>T",
"hgvs_p": "p.Pro911Ser",
"transcript": "ENST00000965241.1",
"protein_id": "ENSP00000635300.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965241.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2641C>T",
"hgvs_p": "p.Pro881Ser",
"transcript": "ENST00000890507.1",
"protein_id": "ENSP00000560566.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2641,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890507.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2596C>T",
"hgvs_p": "p.Pro866Ser",
"transcript": "ENST00000920328.1",
"protein_id": "ENSP00000590387.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920328.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2494C>T",
"hgvs_p": "p.Pro832Ser",
"transcript": "ENST00000890506.1",
"protein_id": "ENSP00000560565.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2494,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890506.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2470C>T",
"hgvs_p": "p.Pro824Ser",
"transcript": "ENST00000920327.1",
"protein_id": "ENSP00000590386.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920327.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Pro818Ser",
"transcript": "ENST00000920329.1",
"protein_id": "ENSP00000590388.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2452,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920329.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "NM_001330609.2",
"protein_id": "NP_001317538.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330609.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Pro770Ser",
"transcript": "ENST00000517845.5",
"protein_id": "ENSP00000429676.1",
"transcript_support_level": 2,
"aa_start": 770,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517845.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "XM_047422502.1",
"protein_id": "XP_047278458.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422502.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "XM_011517409.2",
"protein_id": "XP_011515711.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517409.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser",
"transcript": "XM_047422503.1",
"protein_id": "XP_047278459.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2380-4112C>T",
"hgvs_p": null,
"transcript": "ENST00000965242.1",
"protein_id": "ENSP00000635301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965242.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WASHC5-AS1",
"gene_hgnc_id": 43440,
"hgvs_c": "n.97-489G>A",
"hgvs_p": null,
"transcript": "ENST00000519140.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519140.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WASHC5-AS1",
"gene_hgnc_id": 43440,
"hgvs_c": "n.97-489G>A",
"hgvs_p": null,
"transcript": "NR_170219.1",
"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": "NR_170219.1"
}
],
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"dbsnp": "rs367744328",
"frequency_reference_population": 0.000018600753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000164309,
"gnomad_genomes_af": 0.0000394275,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7356683015823364,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.509,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2307,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.912,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_014846.4",
"gene_symbol": "WASHC5",
"hgnc_id": 28984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2752C>T",
"hgvs_p": "p.Pro918Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000519140.1",
"gene_symbol": "WASHC5-AS1",
"hgnc_id": 43440,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.97-489G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary spastic paraplegia 8,Ritscher-Schinzel syndrome,Spastic paraplegia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8|Spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}