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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: 16-66810413-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66810413&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66810413,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001286500.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "NM_003905.4",
"protein_id": "NP_003896.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 534,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290810.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003905.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000290810.8",
"protein_id": "ENSP00000290810.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 534,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003905.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290810.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1G>A",
"hgvs_p": "p.Ala1Thr",
"transcript": "ENST00000566663.5",
"protein_id": "ENSP00000462937.2",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 129,
"cds_start": 1,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566663.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000934206.1",
"protein_id": "ENSP00000604265.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 545,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934206.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Ala374Thr",
"transcript": "NM_001286500.2",
"protein_id": "NP_001273429.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 537,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286500.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Ala374Thr",
"transcript": "ENST00000359087.8",
"protein_id": "ENSP00000351990.4",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 537,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359087.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Ala374Thr",
"transcript": "ENST00000952148.1",
"protein_id": "ENSP00000622207.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 536,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952148.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000934203.1",
"protein_id": "ENSP00000604262.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 533,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934203.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000952149.1",
"protein_id": "ENSP00000622208.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 533,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952149.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "ENST00000859019.1",
"protein_id": "ENSP00000529078.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 532,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859019.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Ala365Thr",
"transcript": "NM_001018159.2",
"protein_id": "NP_001018169.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 528,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018159.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Ala365Thr",
"transcript": "ENST00000379463.6",
"protein_id": "ENSP00000368776.2",
"transcript_support_level": 2,
"aa_start": 365,
"aa_end": null,
"aa_length": 528,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379463.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"transcript": "ENST00000859016.1",
"protein_id": "ENSP00000529075.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 510,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859016.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000952150.1",
"protein_id": "ENSP00000622209.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 503,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952150.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000859017.1",
"protein_id": "ENSP00000529076.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 479,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859017.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "ENST00000859018.1",
"protein_id": "ENSP00000529077.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 473,
"cds_start": 928,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859018.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "NM_001018160.2",
"protein_id": "NP_001018170.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 445,
"cds_start": 844,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018160.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000394074.6",
"protein_id": "ENSP00000377637.2",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 445,
"cds_start": 844,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394074.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Ala99Thr",
"transcript": "ENST00000934205.1",
"protein_id": "ENSP00000604264.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 262,
"cds_start": 295,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934205.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Ala44Thr",
"transcript": "ENST00000934204.1",
"protein_id": "ENSP00000604263.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 207,
"cds_start": 130,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934204.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "XM_047434835.1",
"protein_id": "XP_047290791.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 445,
"cds_start": 844,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434835.1"
}
],
"gene_symbol": "NAE1",
"gene_hgnc_id": 621,
"dbsnp": "rs532688856",
"frequency_reference_population": 0.0000024992596,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000207156,
"gnomad_genomes_af": 0.00000656642,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1650989055633545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6880000233650208,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.065,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.996317290281363,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286500.2",
"gene_symbol": "NAE1",
"hgnc_id": 621,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Ala374Thr"
}
],
"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
}