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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: 19-39335510-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39335510&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39335510,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004877.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "NM_004877.4",
"protein_id": "NP_004868.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 142,
"cds_start": 25,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000597595.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004877.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "ENST00000597595.6",
"protein_id": "ENSP00000472249.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 142,
"cds_start": 25,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004877.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597595.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "ENST00000598034.5",
"protein_id": "ENSP00000469877.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 138,
"cds_start": 25,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598034.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "ENST00000904715.1",
"protein_id": "ENSP00000574774.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 142,
"cds_start": 25,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904715.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "ENST00000968994.1",
"protein_id": "ENSP00000639053.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 25,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968994.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "ENST00000595636.1",
"protein_id": "ENSP00000469050.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 79,
"cds_start": 25,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595636.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln",
"transcript": "ENST00000594700.5",
"protein_id": "ENSP00000468894.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 73,
"cds_start": 25,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594700.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.-75G>C",
"hgvs_p": null,
"transcript": "NM_001411106.1",
"protein_id": "NP_001398035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411106.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.-75G>C",
"hgvs_p": null,
"transcript": "ENST00000253054.12",
"protein_id": "ENSP00000253054.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253054.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.-75G>C",
"hgvs_p": null,
"transcript": "ENST00000600322.5",
"protein_id": "ENSP00000471139.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600322.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.-23-200G>C",
"hgvs_p": null,
"transcript": "NM_001301008.2",
"protein_id": "NP_001287937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301008.2"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.-23-200G>C",
"hgvs_p": null,
"transcript": "ENST00000601387.5",
"protein_id": "ENSP00000471786.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601387.5"
},
{
"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": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "c.3+464G>C",
"hgvs_p": null,
"transcript": "ENST00000602185.5",
"protein_id": "ENSP00000469813.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602185.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "n.25G>C",
"hgvs_p": null,
"transcript": "ENST00000595207.5",
"protein_id": "ENSP00000472707.1",
"transcript_support_level": 3,
"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": "ENST00000595207.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000596583.5",
"protein_id": "ENSP00000469485.1",
"transcript_support_level": 3,
"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": "ENST00000596583.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "n.132G>C",
"hgvs_p": null,
"transcript": "ENST00000598218.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000598218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"hgvs_c": "n.64+464G>C",
"hgvs_p": null,
"transcript": "ENST00000601731.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000601731.1"
}
],
"gene_symbol": "GMFG",
"gene_hgnc_id": 4374,
"dbsnp": "rs950173396",
"frequency_reference_population": 6.84325e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84325e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3483128249645233,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6700000166893005,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.173,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.096,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.67,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004877.4",
"gene_symbol": "GMFG",
"hgnc_id": 4374,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Glu9Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}