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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: 9-130349061-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130349061&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 130349061,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001291815.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "NM_001291815.2",
"protein_id": "NP_001278744.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 5079,
"cds_start": 4233,
"cds_end": null,
"cds_length": 15240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683500.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291815.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "ENST00000683500.2",
"protein_id": "ENSP00000508292.2",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 5079,
"cds_start": 4233,
"cds_end": null,
"cds_length": 15240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001291815.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683500.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "ENST00000624552.4",
"protein_id": "ENSP00000485357.2",
"transcript_support_level": 5,
"aa_start": 1411,
"aa_end": null,
"aa_length": 5060,
"cds_start": 4233,
"cds_end": null,
"cds_length": 15183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624552.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "XM_011518465.3",
"protein_id": "XP_011516767.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 5038,
"cds_start": 4233,
"cds_end": null,
"cds_length": 15117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518465.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "XM_011518466.3",
"protein_id": "XP_011516768.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 5035,
"cds_start": 4233,
"cds_end": null,
"cds_length": 15108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518466.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "XM_011518467.3",
"protein_id": "XP_011516769.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 5020,
"cds_start": 4233,
"cds_end": null,
"cds_length": 15063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518467.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "XM_011518468.3",
"protein_id": "XP_011516770.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 4790,
"cds_start": 4233,
"cds_end": null,
"cds_length": 14373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518468.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Ser338Ser",
"transcript": "XM_017014585.2",
"protein_id": "XP_016870074.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 4006,
"cds_start": 1014,
"cds_end": null,
"cds_length": 12021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014585.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "XM_011518469.3",
"protein_id": "XP_011516771.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 3447,
"cds_start": 4233,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518469.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "XM_011518470.3",
"protein_id": "XP_011516772.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 2965,
"cds_start": 4233,
"cds_end": null,
"cds_length": 8898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518470.3"
}
],
"gene_symbol": "HMCN2",
"gene_hgnc_id": 21293,
"dbsnp": "rs753404073",
"frequency_reference_population": 0.00010658349,
"hom_count_reference_population": 0,
"allele_count_reference_population": 139,
"gnomad_exomes_af": 0.000105907,
"gnomad_genomes_af": 0.000111702,
"gnomad_exomes_ac": 122,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027000000700354576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.297,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001291815.2",
"gene_symbol": "HMCN2",
"hgnc_id": 21293,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4233T>C",
"hgvs_p": "p.Ser1411Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}