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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: 8-47972876-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47972876&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 47972876,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000649973.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1948T>A",
"hgvs_p": "p.Leu650Met",
"transcript": "NM_182746.3",
"protein_id": "NP_877423.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 863,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": "ENST00000649973.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1948T>A",
"hgvs_p": "p.Leu650Met",
"transcript": "ENST00000649973.1",
"protein_id": "ENSP00000496964.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 863,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": "NM_182746.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1948T>A",
"hgvs_p": "p.Leu650Met",
"transcript": "ENST00000262105.6",
"protein_id": "ENSP00000262105.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 863,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.2071T>A",
"hgvs_p": "p.Leu691Met",
"transcript": "ENST00000649838.1",
"protein_id": "ENSP00000497648.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 904,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1948T>A",
"hgvs_p": "p.Leu650Met",
"transcript": "NM_005914.4",
"protein_id": "NP_005905.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 863,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1798T>A",
"hgvs_p": "p.Leu600Met",
"transcript": "ENST00000649919.1",
"protein_id": "ENSP00000498202.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 813,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1606T>A",
"hgvs_p": "p.Leu536Met",
"transcript": "ENST00000650216.1",
"protein_id": "ENSP00000497093.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 749,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1948T>A",
"hgvs_p": "p.Leu650Met",
"transcript": "ENST00000648407.1",
"protein_id": "ENSP00000497881.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 742,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1105T>A",
"hgvs_p": "p.Leu369Met",
"transcript": "ENST00000520637.2",
"protein_id": "ENSP00000427875.2",
"transcript_support_level": 2,
"aa_start": 369,
"aa_end": null,
"aa_length": 582,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.1681T>A",
"hgvs_p": null,
"transcript": "ENST00000519470.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.165T>A",
"hgvs_p": null,
"transcript": "ENST00000523853.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.*64T>A",
"hgvs_p": null,
"transcript": "ENST00000647877.1",
"protein_id": "ENSP00000497251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.*1677T>A",
"hgvs_p": null,
"transcript": "ENST00000648519.1",
"protein_id": "ENSP00000497176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.55T>A",
"hgvs_p": null,
"transcript": "ENST00000650327.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.3431T>A",
"hgvs_p": null,
"transcript": "ENST00000697120.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.2121T>A",
"hgvs_p": null,
"transcript": "ENST00000697121.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.2030T>A",
"hgvs_p": null,
"transcript": "ENST00000697123.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.*64T>A",
"hgvs_p": null,
"transcript": "ENST00000647877.1",
"protein_id": "ENSP00000497251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.*1677T>A",
"hgvs_p": null,
"transcript": "ENST00000648519.1",
"protein_id": "ENSP00000497176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.1175-3810T>A",
"hgvs_p": null,
"transcript": "ENST00000697122.1",
"protein_id": "ENSP00000513122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "n.35+1408T>A",
"hgvs_p": null,
"transcript": "ENST00000518382.1",
"protein_id": "ENSP00000430864.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"dbsnp": "rs762679",
"frequency_reference_population": 0.8620271,
"hom_count_reference_population": 600719,
"allele_count_reference_population": 1391198,
"gnomad_exomes_af": 0.859828,
"gnomad_genomes_af": 0.883139,
"gnomad_exomes_ac": 1256733,
"gnomad_genomes_ac": 134465,
"gnomad_exomes_homalt": 541232,
"gnomad_genomes_homalt": 59487,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.455410132526595e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0482,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.092,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000649973.1",
"gene_symbol": "MCM4",
"hgnc_id": 6947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1948T>A",
"hgvs_p": "p.Leu650Met"
}
],
"clinvar_disease": "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}