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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: 1-46610097-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46610097&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46610097,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145279.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "NM_201403.3",
"protein_id": "NP_958805.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": "ENST00000319928.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201403.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000319928.9",
"protein_id": "ENSP00000315113.3",
"transcript_support_level": 2,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": "NM_201403.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319928.9"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000271139.13",
"protein_id": "ENSP00000271139.9",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271139.13"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000371940.1",
"protein_id": "ENSP00000361008.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 3670,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371940.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "NM_145279.5",
"protein_id": "NP_660322.3",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145279.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000871613.1",
"protein_id": "ENSP00000541672.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871613.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000871614.1",
"protein_id": "ENSP00000541673.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871614.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000936346.1",
"protein_id": "ENSP00000606405.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 526,
"cds_end": null,
"cds_length": 651,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936346.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "ENST00000871612.1",
"protein_id": "ENSP00000541671.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 215,
"cds_start": 523,
"cds_end": null,
"cds_length": 648,
"cdna_start": 4038,
"cdna_end": null,
"cdna_length": 6098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871612.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "ENST00000961858.1",
"protein_id": "ENSP00000631917.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 215,
"cds_start": 523,
"cds_end": null,
"cds_length": 648,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961858.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.-171+6614A>G",
"hgvs_p": null,
"transcript": "ENST00000531769.6",
"protein_id": "ENSP00000434021.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531769.6"
}
],
"gene_symbol": "MOB3C",
"gene_hgnc_id": 29800,
"dbsnp": "rs41297853",
"frequency_reference_population": 0.00030108314,
"hom_count_reference_population": 1,
"allele_count_reference_population": 486,
"gnomad_exomes_af": 0.000301665,
"gnomad_genomes_af": 0.000295501,
"gnomad_exomes_ac": 441,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010751724243164062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.1442,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.184,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145279.5",
"gene_symbol": "MOB3C",
"hgnc_id": 29800,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000531769.6",
"gene_symbol": "MKNK1",
"hgnc_id": 7110,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-171+6614A>G",
"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
}