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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: 11-7313699-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7313699&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 7313699,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_175733.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "NM_175733.4",
"protein_id": "NP_783860.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 491,
"cds_start": 802,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318881.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175733.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "ENST00000318881.11",
"protein_id": "ENSP00000324419.6",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 491,
"cds_start": 802,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175733.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318881.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_011519900.3",
"protein_id": "XP_011518202.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 567,
"cds_start": 802,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519900.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_011519901.3",
"protein_id": "XP_011518203.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 564,
"cds_start": 802,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519901.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Arg",
"transcript": "XM_011519902.3",
"protein_id": "XP_011518204.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 535,
"cds_start": 706,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519902.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_047426378.1",
"protein_id": "XP_047282334.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 519,
"cds_start": 802,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426378.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_011519904.3",
"protein_id": "XP_011518206.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 492,
"cds_start": 802,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519904.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Arg",
"transcript": "XM_047426379.1",
"protein_id": "XP_047282335.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 459,
"cds_start": 706,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426379.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_047426380.1",
"protein_id": "XP_047282336.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 448,
"cds_start": 802,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426380.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_011519906.3",
"protein_id": "XP_011518208.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 351,
"cds_start": 802,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519906.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg",
"transcript": "XM_011519907.3",
"protein_id": "XP_011518209.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 349,
"cds_start": 802,
"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": "XM_011519907.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "n.706C>A",
"hgvs_p": null,
"transcript": "ENST00000524820.6",
"protein_id": "ENSP00000432141.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000524820.6"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"hgvs_c": "n.497+10309C>A",
"hgvs_p": null,
"transcript": "ENST00000532592.1",
"protein_id": "ENSP00000434558.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000532592.1"
}
],
"gene_symbol": "SYT9",
"gene_hgnc_id": 19265,
"dbsnp": "rs138467146",
"frequency_reference_population": 0.00021189013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 342,
"gnomad_exomes_af": 0.000223685,
"gnomad_genomes_af": 0.000098574,
"gnomad_exomes_ac": 327,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.18000000715255737,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.325,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_175733.4",
"gene_symbol": "SYT9",
"hgnc_id": 19265,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}