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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: 14-73276596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73276596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73276596,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001005743.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1938G>A",
"hgvs_p": "p.Thr646Thr",
"transcript": "NM_001005743.2",
"protein_id": "NP_001005743.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 651,
"cds_start": 1938,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "ENST00000555238.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1938G>A",
"hgvs_p": "p.Thr646Thr",
"transcript": "ENST00000555238.6",
"protein_id": "ENSP00000451300.1",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 651,
"cds_start": 1938,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "NM_001005743.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1905G>A",
"hgvs_p": "p.Thr635Thr",
"transcript": "ENST00000557597.5",
"protein_id": "ENSP00000451117.1",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 640,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1794G>A",
"hgvs_p": "p.Thr598Thr",
"transcript": "ENST00000356296.8",
"protein_id": "ENSP00000348644.4",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1794G>A",
"hgvs_p": "p.Thr598Thr",
"transcript": "ENST00000555394.5",
"protein_id": "ENSP00000451625.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1761G>A",
"hgvs_p": "p.Thr587Thr",
"transcript": "ENST00000554546.5",
"protein_id": "ENSP00000452416.1",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 592,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1506G>A",
"hgvs_p": "p.Thr502Thr",
"transcript": "ENST00000556772.5",
"protein_id": "ENSP00000451513.1",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 507,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 3794,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1500G>A",
"hgvs_p": "p.Thr500Thr",
"transcript": "ENST00000560335.5",
"protein_id": "ENSP00000453209.1",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 505,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1467G>A",
"hgvs_p": "p.Thr489Thr",
"transcript": "ENST00000555738.6",
"protein_id": "ENSP00000452069.2",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 494,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1353G>A",
"hgvs_p": "p.Thr451Thr",
"transcript": "ENST00000559312.5",
"protein_id": "ENSP00000452888.1",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 456,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1320G>A",
"hgvs_p": "p.Thr440Thr",
"transcript": "ENST00000554521.6",
"protein_id": "ENSP00000450817.2",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 445,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1938G>A",
"hgvs_p": "p.Thr646Thr",
"transcript": "ENST00000355058.7",
"protein_id": "ENSP00000347169.3",
"transcript_support_level": 5,
"aa_start": 646,
"aa_end": null,
"aa_length": 651,
"cds_start": 1938,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1905G>A",
"hgvs_p": "p.Thr635Thr",
"transcript": "NM_003744.6",
"protein_id": "NP_003735.3",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 640,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1905G>A",
"hgvs_p": "p.Thr635Thr",
"transcript": "ENST00000359560.7",
"protein_id": "ENSP00000352563.3",
"transcript_support_level": 5,
"aa_start": 635,
"aa_end": null,
"aa_length": 640,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1794G>A",
"hgvs_p": "p.Thr598Thr",
"transcript": "NM_001005744.2",
"protein_id": "NP_001005744.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1794G>A",
"hgvs_p": "p.Thr598Thr",
"transcript": "NM_001320114.2",
"protein_id": "NP_001307043.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1794G>A",
"hgvs_p": "p.Thr598Thr",
"transcript": "ENST00000535282.5",
"protein_id": "ENSP00000441258.2",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 603,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1761G>A",
"hgvs_p": "p.Thr587Thr",
"transcript": "NM_001005745.2",
"protein_id": "NP_001005745.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 592,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1353G>A",
"hgvs_p": "p.Thr451Thr",
"transcript": "ENST00000544991.7",
"protein_id": "ENSP00000446001.3",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 456,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"dbsnp": "rs117957039",
"frequency_reference_population": 0.0019935344,
"hom_count_reference_population": 7,
"allele_count_reference_population": 3214,
"gnomad_exomes_af": 0.00203984,
"gnomad_genomes_af": 0.00154965,
"gnomad_exomes_ac": 2978,
"gnomad_genomes_ac": 236,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.783,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001005743.2",
"gene_symbol": "NUMB",
"hgnc_id": 8060,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1938G>A",
"hgvs_p": "p.Thr646Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}