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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: 7-77199415-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77199415&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 77199415,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006682.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGL2",
"gene_hgnc_id": 3696,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Asp127Tyr",
"transcript": "NM_006682.3",
"protein_id": "NP_006673.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 439,
"cds_start": 379,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248598.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006682.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGL2",
"gene_hgnc_id": 3696,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Asp127Tyr",
"transcript": "ENST00000248598.6",
"protein_id": "ENSP00000248598.5",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 439,
"cds_start": 379,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006682.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248598.6"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.156+31591C>A",
"hgvs_p": null,
"transcript": "NM_020879.3",
"protein_id": "NP_065930.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": null,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285871.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020879.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.156+31591C>A",
"hgvs_p": null,
"transcript": "ENST00000285871.5",
"protein_id": "ENSP00000285871.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": null,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020879.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285871.5"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.156+31591C>A",
"hgvs_p": null,
"transcript": "ENST00000890162.1",
"protein_id": "ENSP00000560221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": null,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890162.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.156+31591C>A",
"hgvs_p": null,
"transcript": "ENST00000415750.5",
"protein_id": "ENSP00000388649.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415750.5"
},
{
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.156+31591C>A",
"hgvs_p": null,
"transcript": "XM_047420662.1",
"protein_id": "XP_047276618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": null,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420662.1"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.3+1098C>A",
"hgvs_p": null,
"transcript": "XM_047420663.1",
"protein_id": "XP_047276619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": null,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420663.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.-9-37532C>A",
"hgvs_p": null,
"transcript": "XM_047420664.1",
"protein_id": "XP_047276620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": null,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420664.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.5+31591C>A",
"hgvs_p": null,
"transcript": "XM_047420665.1",
"protein_id": "XP_047276621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": null,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420665.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.3+1098C>A",
"hgvs_p": null,
"transcript": "XM_047420666.1",
"protein_id": "XP_047276622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": null,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420666.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.3+1098C>A",
"hgvs_p": null,
"transcript": "XM_047420668.1",
"protein_id": "XP_047276624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": null,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420668.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC146",
"gene_hgnc_id": 29296,
"hgvs_c": "c.5+31591C>A",
"hgvs_p": null,
"transcript": "XM_047420669.1",
"protein_id": "XP_047276625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": null,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGL2",
"gene_hgnc_id": 3696,
"hgvs_c": "n.434G>T",
"hgvs_p": null,
"transcript": "ENST00000637771.2",
"protein_id": null,
"transcript_support_level": 6,
"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": "retained_intron",
"feature": "ENST00000637771.2"
}
],
"gene_symbol": "FGL2",
"gene_hgnc_id": 3696,
"dbsnp": "rs761091736",
"frequency_reference_population": 0.0000037173293,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342029,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25777730345726013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.1047,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.638,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006682.3",
"gene_symbol": "FGL2",
"hgnc_id": 3696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Asp127Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020879.3",
"gene_symbol": "CCDC146",
"hgnc_id": 29296,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.156+31591C>A",
"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
}