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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: 14-73276848-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73276848&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73276848,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001005743.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Phe562Leu",
"transcript": "NM_001005743.2",
"protein_id": "NP_001005743.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 651,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "ENST00000555238.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Phe562Leu",
"transcript": "ENST00000555238.6",
"protein_id": "ENSP00000451300.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 651,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "NM_001005743.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Phe551Leu",
"transcript": "ENST00000557597.5",
"protein_id": "ENSP00000451117.1",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 640,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1542C>G",
"hgvs_p": "p.Phe514Leu",
"transcript": "ENST00000356296.8",
"protein_id": "ENSP00000348644.4",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 603,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1542C>G",
"hgvs_p": "p.Phe514Leu",
"transcript": "ENST00000555394.5",
"protein_id": "ENSP00000451625.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 603,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Phe503Leu",
"transcript": "ENST00000554546.5",
"protein_id": "ENSP00000452416.1",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 592,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Phe418Leu",
"transcript": "ENST00000556772.5",
"protein_id": "ENSP00000451513.1",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 507,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1248C>G",
"hgvs_p": "p.Phe416Leu",
"transcript": "ENST00000560335.5",
"protein_id": "ENSP00000453209.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 505,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1215C>G",
"hgvs_p": "p.Phe405Leu",
"transcript": "ENST00000555738.6",
"protein_id": "ENSP00000452069.2",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 494,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1101C>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "ENST00000559312.5",
"protein_id": "ENSP00000452888.1",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 456,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1068C>G",
"hgvs_p": "p.Phe356Leu",
"transcript": "ENST00000554521.6",
"protein_id": "ENSP00000450817.2",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 445,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Phe562Leu",
"transcript": "ENST00000355058.7",
"protein_id": "ENSP00000347169.3",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 651,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Phe551Leu",
"transcript": "NM_003744.6",
"protein_id": "NP_003735.3",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 640,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Phe551Leu",
"transcript": "ENST00000359560.7",
"protein_id": "ENSP00000352563.3",
"transcript_support_level": 5,
"aa_start": 551,
"aa_end": null,
"aa_length": 640,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1542C>G",
"hgvs_p": "p.Phe514Leu",
"transcript": "NM_001005744.2",
"protein_id": "NP_001005744.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 603,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1542C>G",
"hgvs_p": "p.Phe514Leu",
"transcript": "NM_001320114.2",
"protein_id": "NP_001307043.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 603,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1542C>G",
"hgvs_p": "p.Phe514Leu",
"transcript": "ENST00000535282.5",
"protein_id": "ENSP00000441258.2",
"transcript_support_level": 5,
"aa_start": 514,
"aa_end": null,
"aa_length": 603,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Phe503Leu",
"transcript": "NM_001005745.2",
"protein_id": "NP_001005745.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 592,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1101C>G",
"hgvs_p": "p.Phe367Leu",
"transcript": "ENST00000544991.7",
"protein_id": "ENSP00000446001.3",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 456,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"dbsnp": "rs1330214084",
"frequency_reference_population": 0.000006569957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656996,
"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": 0.15836098790168762,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.4585,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.772,
"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_001005743.2",
"gene_symbol": "NUMB",
"hgnc_id": 8060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Phe562Leu"
}
],
"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
}