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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: 2-49922214-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=49922214&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 49922214,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000401669.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4254A>T",
"hgvs_p": "p.Pro1418Pro",
"transcript": "NM_001330078.2",
"protein_id": "NP_001317007.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5327,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "ENST00000401669.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4254A>T",
"hgvs_p": "p.Pro1418Pro",
"transcript": "ENST00000401669.7",
"protein_id": "ENSP00000385017.2",
"transcript_support_level": 5,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5327,
"cdna_end": null,
"cdna_length": 9038,
"mane_select": "NM_001330078.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4374A>T",
"hgvs_p": "p.Pro1458Pro",
"transcript": "ENST00000404971.5",
"protein_id": "ENSP00000385142.1",
"transcript_support_level": 1,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4374,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5714,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4221A>T",
"hgvs_p": "p.Pro1407Pro",
"transcript": "ENST00000625672.2",
"protein_id": "ENSP00000485887.1",
"transcript_support_level": 1,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4221,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.1059A>T",
"hgvs_p": "p.Pro353Pro",
"transcript": "ENST00000342183.9",
"protein_id": "ENSP00000341184.5",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 442,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.150A>T",
"hgvs_p": "p.Pro50Pro",
"transcript": "ENST00000412315.5",
"protein_id": "ENSP00000396738.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 139,
"cds_start": 150,
"cds_end": null,
"cds_length": 420,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.-43A>T",
"hgvs_p": null,
"transcript": "ENST00000630656.1",
"protein_id": "ENSP00000486993.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4374A>T",
"hgvs_p": "p.Pro1458Pro",
"transcript": "NM_001135659.3",
"protein_id": "NP_001129131.1",
"transcript_support_level": null,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4374,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 5447,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4251A>T",
"hgvs_p": "p.Pro1417Pro",
"transcript": "NM_001330093.2",
"protein_id": "NP_001317022.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 5324,
"cdna_end": null,
"cdna_length": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4245A>T",
"hgvs_p": "p.Pro1415Pro",
"transcript": "NM_001330086.2",
"protein_id": "NP_001317015.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1504,
"cds_start": 4245,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 9029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4233A>T",
"hgvs_p": "p.Pro1411Pro",
"transcript": "NM_001330094.2",
"protein_id": "NP_001317023.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4233,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 5306,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4230A>T",
"hgvs_p": "p.Pro1410Pro",
"transcript": "NM_001330077.2",
"protein_id": "NP_001317006.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4230,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 5303,
"cdna_end": null,
"cdna_length": 9014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4230A>T",
"hgvs_p": "p.Pro1410Pro",
"transcript": "ENST00000630543.2",
"protein_id": "ENSP00000486879.1",
"transcript_support_level": 5,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4230,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4230,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4227A>T",
"hgvs_p": "p.Pro1409Pro",
"transcript": "NM_001330085.2",
"protein_id": "NP_001317014.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1498,
"cds_start": 4227,
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"cds_length": 4497,
"cdna_start": 5300,
"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4221A>T",
"hgvs_p": "p.Pro1407Pro",
"transcript": "NM_001330082.2",
"protein_id": "NP_001317011.1",
"transcript_support_level": null,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4221,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 5294,
"cdna_end": null,
"cdna_length": 9005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4218A>T",
"hgvs_p": "p.Pro1406Pro",
"transcript": "ENST00000405472.7",
"protein_id": "ENSP00000434015.2",
"transcript_support_level": 5,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1495,
"cds_start": 4218,
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"cdna_start": 5273,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4188A>T",
"hgvs_p": "p.Pro1396Pro",
"transcript": "NM_001330084.2",
"protein_id": "NP_001317013.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4188,
"cds_end": null,
"cds_length": 4458,
"cdna_start": 5261,
"cdna_end": null,
"cdna_length": 8972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4164A>T",
"hgvs_p": "p.Pro1388Pro",
"transcript": "NM_004801.6",
"protein_id": "NP_004792.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 5237,
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"cdna_length": 8948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4164A>T",
"hgvs_p": "p.Pro1388Pro",
"transcript": "ENST00000406316.6",
"protein_id": "ENSP00000384311.2",
"transcript_support_level": 5,
"aa_start": 1388,
"aa_end": null,
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"cdna_start": 5666,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4113A>T",
"hgvs_p": "p.Pro1371Pro",
"transcript": "NM_001330095.2",
"protein_id": "NP_001317024.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
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"cds_start": 4113,
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"cdna_start": 5186,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4089A>T",
"hgvs_p": "p.Pro1363Pro",
"transcript": "NM_001330083.2",
"protein_id": "NP_001317012.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1452,
"cds_start": 4089,
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"cds_length": 4359,
"cdna_start": 5162,
"cdna_end": null,
"cdna_length": 8873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRXN1",
"gene_hgnc_id": 8008,
"hgvs_c": "c.4074A>T",
"hgvs_p": "p.Pro1358Pro",
"transcript": "NM_001330088.2",
"protein_id": "NP_001317017.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 5147,
"cdna_end": null,
"cdna_length": 8858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000401669.7",
"gene_symbol": "NRXN1",
"hgnc_id": 8008,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.4254A>T",
"hgvs_p": "p.Pro1418Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}