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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: 8-125032257-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125032257&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 125032257,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014846.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "NM_014846.4",
"protein_id": "NP_055661.3",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "ENST00000318410.12",
"protein_id": "ENSP00000318016.7",
"transcript_support_level": 1,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3367G>T",
"hgvs_p": "p.Val1123Leu",
"transcript": "ENST00000920325.1",
"protein_id": "ENSP00000590384.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3367,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "ENST00000890504.1",
"protein_id": "ENSP00000560563.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "ENST00000890505.1",
"protein_id": "ENSP00000560564.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "ENST00000920326.1",
"protein_id": "ENSP00000590385.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "ENST00000965243.1",
"protein_id": "ENSP00000635302.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3298G>T",
"hgvs_p": "p.Val1100Leu",
"transcript": "ENST00000965241.1",
"protein_id": "ENSP00000635300.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3298,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3208G>T",
"hgvs_p": "p.Val1070Leu",
"transcript": "ENST00000890507.1",
"protein_id": "ENSP00000560566.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3208,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3163G>T",
"hgvs_p": "p.Val1055Leu",
"transcript": "ENST00000920328.1",
"protein_id": "ENSP00000590387.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3163,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Val1021Leu",
"transcript": "ENST00000890506.1",
"protein_id": "ENSP00000560565.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1073,
"cds_start": 3061,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3037G>T",
"hgvs_p": "p.Val1013Leu",
"transcript": "ENST00000920327.1",
"protein_id": "ENSP00000590386.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3037,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3019G>T",
"hgvs_p": "p.Val1007Leu",
"transcript": "ENST00000920329.1",
"protein_id": "ENSP00000590388.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3019,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2875G>T",
"hgvs_p": "p.Val959Leu",
"transcript": "NM_001330609.2",
"protein_id": "NP_001317538.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2875,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2875G>T",
"hgvs_p": "p.Val959Leu",
"transcript": "ENST00000517845.5",
"protein_id": "ENSP00000429676.1",
"transcript_support_level": 2,
"aa_start": 959,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2875,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.2848G>T",
"hgvs_p": "p.Val950Leu",
"transcript": "ENST00000965242.1",
"protein_id": "ENSP00000635301.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2848,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu",
"transcript": "XM_047422502.1",
"protein_id": "XP_047278458.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3319,
"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": 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": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "n.458G>T",
"hgvs_p": null,
"transcript": "ENST00000519042.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000519042.2"
}
],
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"dbsnp": "rs138407503",
"frequency_reference_population": 0.00003283706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000348874,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12312465906143188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.198,
"revel_prediction": "Benign",
"alphamissense_score": 0.1407,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.149,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014846.4",
"gene_symbol": "WASHC5",
"hgnc_id": 28984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Val1107Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}