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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: 16-66813623-AAC-TAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66813623&ref=AAC&alt=TAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NAE1",
"hgnc_id": 621,
"hgvs_c": "c.982_984delGTTinsATA",
"hgvs_p": "p.Val328Ile",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001286500.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 534,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1605,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003905.4",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000290810.8",
"protein_coding": true,
"protein_id": "NP_003896.1",
"strand": false,
"transcript": "NM_003905.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 534,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1605,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000290810.8",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003905.4",
"protein_coding": true,
"protein_id": "ENSP00000290810.3",
"strand": false,
"transcript": "ENST00000290810.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1638,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934206.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604265.1",
"strand": false,
"transcript": "ENST00000934206.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 537,
"aa_ref": "V",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1614,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286500.2",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.982_984delGTTinsATA",
"hgvs_p": "p.Val328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273429.1",
"strand": false,
"transcript": "NM_001286500.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 537,
"aa_ref": "V",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1614,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359087.8",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.982_984delGTTinsATA",
"hgvs_p": "p.Val328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351990.4",
"strand": false,
"transcript": "ENST00000359087.8",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 536,
"aa_ref": "V",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1611,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952148.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.982_984delGTTinsATA",
"hgvs_p": "p.Val328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622207.1",
"strand": false,
"transcript": "ENST00000952148.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1602,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934203.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604262.1",
"strand": false,
"transcript": "ENST00000934203.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 533,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1602,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952149.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622208.1",
"strand": false,
"transcript": "ENST00000952149.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 532,
"aa_ref": "V",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1599,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859019.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.967_969delGTTinsATA",
"hgvs_p": "p.Val323Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529078.1",
"strand": false,
"transcript": "ENST00000859019.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 528,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1587,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018159.2",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.955_957delGTTinsATA",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018169.1",
"strand": false,
"transcript": "NM_001018159.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 528,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1587,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379463.6",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.955_957delGTTinsATA",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368776.2",
"strand": false,
"transcript": "ENST00000379463.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 510,
"aa_ref": "V",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1533,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859016.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.901_903delGTTinsATA",
"hgvs_p": "p.Val301Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529075.1",
"strand": false,
"transcript": "ENST00000859016.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 503,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1512,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952150.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622209.1",
"strand": false,
"transcript": "ENST00000952150.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 479,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1440,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859017.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.973_975delGTTinsATA",
"hgvs_p": "p.Val325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529076.1",
"strand": false,
"transcript": "ENST00000859017.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 473,
"aa_ref": "V",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1422,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859018.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.790_792delGTTinsATA",
"hgvs_p": "p.Val264Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529077.1",
"strand": false,
"transcript": "ENST00000859018.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1338,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018160.2",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.706_708delGTTinsATA",
"hgvs_p": "p.Val236Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018170.1",
"strand": false,
"transcript": "NM_001018160.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1338,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394074.6",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.706_708delGTTinsATA",
"hgvs_p": "p.Val236Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377637.2",
"strand": false,
"transcript": "ENST00000394074.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1338,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434835.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.706_708delGTTinsATA",
"hgvs_p": "p.Val236Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290791.1",
"strand": false,
"transcript": "XM_047434835.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934205.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.219-2853_219-2851delGTTinsATA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604264.1",
"strand": false,
"transcript": "ENST00000934205.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934204.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "c.54-2853_54-2851delGTTinsATA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604263.1",
"strand": false,
"transcript": "ENST00000934204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000567521.1",
"gene_hgnc_id": 621,
"gene_symbol": "NAE1",
"hgvs_c": "n.269_271delGTTinsATA",
"hgvs_p": null,
"intron_rank": null,
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}