← Back to variant description
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: 7-114942305-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=114942305&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 114942305,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_199072.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "NM_001166345.3",
"protein_id": "NP_001159817.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393486.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166345.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000393486.6",
"protein_id": "ENSP00000377126.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166345.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393486.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.452A>C",
"hgvs_p": "p.Asp151Ala",
"transcript": "NM_199072.5",
"protein_id": "NP_951038.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 355,
"cds_start": 452,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199072.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000963682.1",
"protein_id": "ENSP00000633741.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 287,
"cds_start": 125,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963682.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000904588.1",
"protein_id": "ENSP00000574647.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904588.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000904592.1",
"protein_id": "ENSP00000574651.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904592.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000926204.1",
"protein_id": "ENSP00000596263.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926204.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000963678.1",
"protein_id": "ENSP00000633737.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963678.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000963679.1",
"protein_id": "ENSP00000633738.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963679.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000963681.1",
"protein_id": "ENSP00000633740.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 246,
"cds_start": 125,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963681.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.83A>C",
"hgvs_p": "p.Asp28Ala",
"transcript": "ENST00000427207.5",
"protein_id": "ENSP00000392098.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 156,
"cds_start": 83,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427207.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000904589.1",
"protein_id": "ENSP00000574648.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 154,
"cds_start": 125,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904589.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000904590.1",
"protein_id": "ENSP00000574649.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 154,
"cds_start": 125,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904590.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.125A>C",
"hgvs_p": "p.Asp42Ala",
"transcript": "ENST00000963683.1",
"protein_id": "ENSP00000633742.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 154,
"cds_start": 125,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.-41A>C",
"hgvs_p": null,
"transcript": "ENST00000498196.1",
"protein_id": "ENSP00000418337.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.94+19178A>C",
"hgvs_p": null,
"transcript": "ENST00000904591.1",
"protein_id": "ENSP00000574650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "c.94+19178A>C",
"hgvs_p": null,
"transcript": "ENST00000963680.1",
"protein_id": "ENSP00000633739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"hgvs_c": "n.95A>C",
"hgvs_p": null,
"transcript": "ENST00000431629.5",
"protein_id": "ENSP00000416668.1",
"transcript_support_level": 5,
"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": "ENST00000431629.5"
}
],
"gene_symbol": "MDFIC",
"gene_hgnc_id": 28870,
"dbsnp": "rs1199925291",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0612885057926178,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.547,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_199072.5",
"gene_symbol": "MDFIC",
"hgnc_id": 28870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.452A>C",
"hgvs_p": "p.Asp151Ala"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}