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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: 19-868237-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=868237&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 868237,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005481.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2498G>C",
"hgvs_p": "p.Arg833Pro",
"transcript": "NM_005481.3",
"protein_id": "NP_005472.2",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 877,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": "ENST00000325464.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005481.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2498G>C",
"hgvs_p": "p.Arg833Pro",
"transcript": "ENST00000325464.6",
"protein_id": "ENSP00000325612.1",
"transcript_support_level": 5,
"aa_start": 833,
"aa_end": null,
"aa_length": 877,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": "NM_005481.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325464.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.*136G>C",
"hgvs_p": null,
"transcript": "ENST00000312090.10",
"protein_id": "ENSP00000308528.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312090.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.*136G>C",
"hgvs_p": null,
"transcript": "ENST00000395808.7",
"protein_id": "ENSP00000379153.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": null,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395808.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.*213G>C",
"hgvs_p": null,
"transcript": "ENST00000607471.5",
"protein_id": "ENSP00000475725.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": null,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607471.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "n.*767G>C",
"hgvs_p": null,
"transcript": "ENST00000606248.5",
"protein_id": "ENSP00000475528.1",
"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": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000606248.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "n.*767G>C",
"hgvs_p": null,
"transcript": "ENST00000606248.5",
"protein_id": "ENSP00000475528.1",
"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": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000606248.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro",
"transcript": "ENST00000946172.1",
"protein_id": "ENSP00000616231.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 896,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2702,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946172.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2453G>C",
"hgvs_p": "p.Arg818Pro",
"transcript": "ENST00000946174.1",
"protein_id": "ENSP00000616233.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 862,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946174.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2342G>C",
"hgvs_p": "p.Arg781Pro",
"transcript": "ENST00000946173.1",
"protein_id": "ENSP00000616232.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 825,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946173.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Val73Leu",
"transcript": "ENST00000621073.4",
"protein_id": "ENSP00000478286.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 78,
"cds_start": 217,
"cds_end": null,
"cds_length": 237,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621073.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2291G>C",
"hgvs_p": "p.Arg764Pro",
"transcript": "XM_017026120.3",
"protein_id": "XP_016881609.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 808,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026120.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.*136G>C",
"hgvs_p": null,
"transcript": "XM_047438010.1",
"protein_id": "XP_047293966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438010.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"hgvs_c": "c.2484-91G>C",
"hgvs_p": null,
"transcript": "ENST00000946175.1",
"protein_id": "ENSP00000616234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946175.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFD",
"gene_hgnc_id": 2771,
"hgvs_c": "c.*18-340C>G",
"hgvs_p": null,
"transcript": "ENST00000866187.1",
"protein_id": "ENSP00000536246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866187.1"
}
],
"gene_symbol": "MED16",
"gene_hgnc_id": 17556,
"dbsnp": "rs748410169",
"frequency_reference_population": 0.0000050140643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000277121,
"gnomad_genomes_af": 0.0000262985,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04693913459777832,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.005,
"revel_prediction": "Benign",
"alphamissense_score": 0.1043,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.76,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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_005481.3",
"gene_symbol": "MED16",
"hgnc_id": 17556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2498G>C",
"hgvs_p": "p.Arg833Pro"
},
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000866187.1",
"gene_symbol": "CFD",
"hgnc_id": 2771,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*18-340C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}