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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: 3-50331600-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50331600&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50331600,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_170714.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "NM_007182.5",
"protein_id": "NP_009113.3",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 340,
"cds_start": 719,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359365.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007182.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "ENST00000359365.9",
"protein_id": "ENSP00000352323.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 340,
"cds_start": 719,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007182.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359365.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.731G>C",
"hgvs_p": "p.Arg244Pro",
"transcript": "ENST00000357043.6",
"protein_id": "ENSP00000349547.2",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 344,
"cds_start": 731,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357043.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Arg170Pro",
"transcript": "ENST00000327761.7",
"protein_id": "ENSP00000333327.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 270,
"cds_start": 509,
"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": "ENST00000327761.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Pro",
"transcript": "ENST00000395126.7",
"protein_id": "ENSP00000378558.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395126.7"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "n.*48G>C",
"hgvs_p": null,
"transcript": "ENST00000482447.1",
"protein_id": "ENSP00000433000.1",
"transcript_support_level": 1,
"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": "ENST00000482447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "n.*48G>C",
"hgvs_p": null,
"transcript": "ENST00000482447.1",
"protein_id": "ENSP00000433000.1",
"transcript_support_level": 1,
"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": "ENST00000482447.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.731G>C",
"hgvs_p": "p.Arg244Pro",
"transcript": "NM_170714.2",
"protein_id": "NP_733832.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 344,
"cds_start": 731,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170714.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"transcript": "ENST00000954825.1",
"protein_id": "ENSP00000624884.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 308,
"cds_start": 623,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954825.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Arg170Pro",
"transcript": "NM_170713.3",
"protein_id": "NP_733831.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 270,
"cds_start": 509,
"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_170713.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Pro",
"transcript": "NM_001206957.2",
"protein_id": "NP_001193886.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206957.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Pro",
"transcript": "NM_170712.3",
"protein_id": "NP_733830.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170712.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Pro",
"transcript": "ENST00000616212.4",
"protein_id": "ENSP00000482696.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616212.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Pro",
"transcript": "XM_011533316.3",
"protein_id": "XP_011531618.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533316.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Pro",
"transcript": "XM_047447372.1",
"protein_id": "XP_047303328.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "n.*333G>C",
"hgvs_p": null,
"transcript": "ENST00000395117.6",
"protein_id": "ENSP00000378549.2",
"transcript_support_level": 2,
"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": "ENST00000395117.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"hgvs_c": "n.*333G>C",
"hgvs_p": null,
"transcript": "ENST00000395117.6",
"protein_id": "ENSP00000378549.2",
"transcript_support_level": 2,
"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": "ENST00000395117.6"
}
],
"gene_symbol": "RASSF1",
"gene_hgnc_id": 9882,
"dbsnp": "rs751246285",
"frequency_reference_population": 0.0000065693525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7962085008621216,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.8187,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.543,
"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": 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_170714.2",
"gene_symbol": "RASSF1",
"hgnc_id": 9882,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.731G>C",
"hgvs_p": "p.Arg244Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}