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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: 9-14307442-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14307442&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14307442,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000380953.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "NM_001190737.2",
"protein_id": "NP_001177666.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 494,
"cds_start": 109,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": "ENST00000380953.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "ENST00000380953.6",
"protein_id": "ENSP00000370340.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 494,
"cds_start": 109,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": "NM_001190737.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "ENST00000380959.7",
"protein_id": "ENSP00000370346.3",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 420,
"cds_start": 109,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 8198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "ENST00000380921.3",
"protein_id": "ENSP00000370308.3",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 200,
"cds_start": 109,
"cds_end": null,
"cds_length": 603,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1274,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.-36C>T",
"hgvs_p": null,
"transcript": "NM_001369469.1",
"protein_id": "NP_001356398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "NM_001369458.1",
"protein_id": "NP_001356387.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 592,
"cds_start": 175,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 8163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "NM_001369459.1",
"protein_id": "NP_001356388.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 583,
"cds_start": 175,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 8136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "NM_001429577.1",
"protein_id": "NP_001416506.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 570,
"cds_start": 109,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 8692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "ENST00000397581.7",
"protein_id": "ENSP00000380711.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 570,
"cds_start": 109,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 8692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33*",
"transcript": "NM_001369460.1",
"protein_id": "NP_001356389.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 566,
"cds_start": 97,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33*",
"transcript": "ENST00000646622.1",
"protein_id": "ENSP00000496424.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 566,
"cds_start": 97,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "NM_001369461.1",
"protein_id": "NP_001356390.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 561,
"cds_start": 109,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "ENST00000397575.7",
"protein_id": "ENSP00000380705.3",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 561,
"cds_start": 109,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "NM_001369462.1",
"protein_id": "NP_001356391.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 509,
"cds_start": 175,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 7914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33*",
"transcript": "NM_001369463.1",
"protein_id": "NP_001356392.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 494,
"cds_start": 97,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 8307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "NM_001369464.1",
"protein_id": "NP_001356393.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 487,
"cds_start": 109,
"cds_end": null,
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"cdna_start": 739,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*",
"transcript": "ENST00000397579.6",
"protein_id": "ENSP00000380709.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 487,
"cds_start": 109,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28*",
"transcript": "NM_001369465.1",
"protein_id": "NP_001356394.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 485,
"cds_start": 82,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33*",
"transcript": "NM_001369466.1",
"protein_id": "NP_001356395.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 483,
"cds_start": 97,
"cds_end": null,
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"cdna_start": 526,
"cdna_end": null,
"cdna_length": 8230,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Arg29*",
"transcript": "ENST00000635877.1",
"protein_id": "ENSP00000490945.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 479,
"cds_start": 85,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28*",
"transcript": "NM_001369467.1",
"protein_id": "NP_001356396.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 478,
"cds_start": 82,
"cds_end": null,
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"cdna_start": 195,
"cdna_end": null,
"cdna_length": 7899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28*",
"transcript": "ENST00000637640.1",
"protein_id": "ENSP00000490020.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 478,
"cds_start": 82,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"transcript": "NM_001190738.2",
"protein_id": "NP_001177667.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 446,
"cds_start": 187,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 539,
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"verdict": "Pathogenic",
"transcript": "ENST00000380953.6",
"gene_symbol": "NFIB",
"hgnc_id": 7785,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Arg37*"
}
],
"clinvar_disease": " acquired, with impaired intellectual development,Intellectual disability,Macrocephaly,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Intellectual disability;Macrocephaly|Macrocephaly, acquired, with impaired intellectual development|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}