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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: 7-4916051-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=4916051&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 4916051,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001100600.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_198403.4",
"protein_id": "NP_940685.3",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 246,
"cds_start": 319,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401401.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198403.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "ENST00000401401.8",
"protein_id": "ENSP00000384141.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 246,
"cds_start": 319,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198403.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401401.8"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "ENST00000404774.7",
"protein_id": "ENSP00000384690.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 270,
"cds_start": 319,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404774.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "ENST00000406755.5",
"protein_id": "ENSP00000385963.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 193,
"cds_start": 319,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406755.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001100600.2",
"protein_id": "NP_001094070.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 270,
"cds_start": 319,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100600.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "ENST00000963657.1",
"protein_id": "ENSP00000633716.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 212,
"cds_start": 319,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963657.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr",
"transcript": "NM_001270375.2",
"protein_id": "NP_001257304.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 193,
"cds_start": 319,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270375.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"hgvs_c": "n.489G>T",
"hgvs_p": null,
"transcript": "NR_072989.2",
"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_072989.2"
}
],
"gene_symbol": "MMD2",
"gene_hgnc_id": 30133,
"dbsnp": "rs201737285",
"frequency_reference_population": 0.00004089665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000383152,
"gnomad_genomes_af": 0.0000656763,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9498852491378784,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.755,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.461,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001100600.2",
"gene_symbol": "MMD2",
"hgnc_id": 30133,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Asp107Tyr"
}
],
"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
}