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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: 8-2949343-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=2949343&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 2949343,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033225.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10358A>G",
"hgvs_p": "p.Asp3453Gly",
"transcript": "NM_033225.6",
"protein_id": "NP_150094.5",
"transcript_support_level": null,
"aa_start": 3453,
"aa_end": null,
"aa_length": 3564,
"cds_start": 10358,
"cds_end": null,
"cds_length": 10695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635120.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033225.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10358A>G",
"hgvs_p": "p.Asp3453Gly",
"transcript": "ENST00000635120.2",
"protein_id": "ENSP00000489225.1",
"transcript_support_level": 5,
"aa_start": 3453,
"aa_end": null,
"aa_length": 3564,
"cds_start": 10358,
"cds_end": null,
"cds_length": 10695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033225.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635120.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.8564A>G",
"hgvs_p": "p.Asp2855Gly",
"transcript": "ENST00000335551.11",
"protein_id": "ENSP00000334828.6",
"transcript_support_level": 1,
"aa_start": 2855,
"aa_end": null,
"aa_length": 2966,
"cds_start": 8564,
"cds_end": null,
"cds_length": 8901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335551.11"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10361A>G",
"hgvs_p": "p.Asp3454Gly",
"transcript": "ENST00000520002.5",
"protein_id": "ENSP00000430733.1",
"transcript_support_level": 5,
"aa_start": 3454,
"aa_end": null,
"aa_length": 3565,
"cds_start": 10361,
"cds_end": null,
"cds_length": 10698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520002.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10361A>G",
"hgvs_p": "p.Asp3454Gly",
"transcript": "ENST00000602557.5",
"protein_id": "ENSP00000473359.1",
"transcript_support_level": 5,
"aa_start": 3454,
"aa_end": null,
"aa_length": 3565,
"cds_start": 10361,
"cds_end": null,
"cds_length": 10698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602557.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.9830A>G",
"hgvs_p": "p.Asp3277Gly",
"transcript": "ENST00000400186.7",
"protein_id": "ENSP00000383047.3",
"transcript_support_level": 5,
"aa_start": 3277,
"aa_end": null,
"aa_length": 3388,
"cds_start": 9830,
"cds_end": null,
"cds_length": 10167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400186.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.9830A>G",
"hgvs_p": "p.Asp3277Gly",
"transcript": "ENST00000602723.5",
"protein_id": "ENSP00000473617.1",
"transcript_support_level": 5,
"aa_start": 3277,
"aa_end": null,
"aa_length": 3388,
"cds_start": 9830,
"cds_end": null,
"cds_length": 10167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602723.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.10313A>G",
"hgvs_p": "p.Asp3438Gly",
"transcript": "XM_011534752.3",
"protein_id": "XP_011533054.1",
"transcript_support_level": null,
"aa_start": 3438,
"aa_end": null,
"aa_length": 3549,
"cds_start": 10313,
"cds_end": null,
"cds_length": 10650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534752.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.7451A>G",
"hgvs_p": "p.Asp2484Gly",
"transcript": "XM_011534753.4",
"protein_id": "XP_011533055.1",
"transcript_support_level": null,
"aa_start": 2484,
"aa_end": null,
"aa_length": 2595,
"cds_start": 7451,
"cds_end": null,
"cds_length": 7788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534753.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"hgvs_c": "c.6380A>G",
"hgvs_p": "p.Asp2127Gly",
"transcript": "XM_011534754.2",
"protein_id": "XP_011533056.1",
"transcript_support_level": null,
"aa_start": 2127,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6380,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534754.2"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1167-51662T>C",
"hgvs_p": null,
"transcript": "NR_168441.1",
"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_168441.1"
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.2191+22713T>C",
"hgvs_p": null,
"transcript": "NR_168442.1",
"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_168442.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1172-59225T>C",
"hgvs_p": null,
"transcript": "NR_168443.1",
"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_168443.1"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1167-40195T>C",
"hgvs_p": null,
"transcript": "NR_168444.1",
"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_168444.1"
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105377785",
"gene_hgnc_id": null,
"hgvs_c": "n.1250-40195T>C",
"hgvs_p": null,
"transcript": "NR_168445.1",
"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_168445.1"
}
],
"gene_symbol": "CSMD1",
"gene_hgnc_id": 14026,
"dbsnp": "rs368405203",
"frequency_reference_population": 0.000011813099,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000102994,
"gnomad_genomes_af": 0.0000263168,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07248425483703613,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.2535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.085,
"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_033225.6",
"gene_symbol": "CSMD1",
"hgnc_id": 14026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.10358A>G",
"hgvs_p": "p.Asp3453Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_168441.1",
"gene_symbol": "LOC105377785",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1167-51662T>C",
"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
}