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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: 12-76050628-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=76050628&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 76050628,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004537.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "NM_004537.7",
"protein_id": "NP_004528.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618691.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004537.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000618691.5",
"protein_id": "ENSP00000477538.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004537.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618691.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000393263.7",
"protein_id": "ENSP00000376947.3",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393263.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "n.2257C>T",
"hgvs_p": null,
"transcript": "ENST00000547993.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547993.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "NM_001330231.2",
"protein_id": "NP_001317160.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330231.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "NM_139207.5",
"protein_id": "NP_631946.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139207.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000880560.1",
"protein_id": "ENSP00000550619.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880560.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000880561.1",
"protein_id": "ENSP00000550620.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880561.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000951463.1",
"protein_id": "ENSP00000621522.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 391,
"cds_start": 962,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951463.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000916571.1",
"protein_id": "ENSP00000586630.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 390,
"cds_start": 962,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916571.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "ENST00000552056.5",
"protein_id": "ENSP00000450236.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 385,
"cds_start": 944,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552056.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "NM_001307924.3",
"protein_id": "NP_001294853.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 383,
"cds_start": 962,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307924.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000535020.6",
"protein_id": "ENSP00000445008.2",
"transcript_support_level": 2,
"aa_start": 321,
"aa_end": null,
"aa_length": 383,
"cds_start": 962,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535020.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "ENST00000552342.5",
"protein_id": "ENSP00000447196.1",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 379,
"cds_start": 995,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552342.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Ala321Val",
"transcript": "ENST00000549596.5",
"protein_id": "ENSP00000447793.1",
"transcript_support_level": 2,
"aa_start": 321,
"aa_end": null,
"aa_length": 368,
"cds_start": 962,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549596.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Ala279Val",
"transcript": "ENST00000542344.5",
"protein_id": "ENSP00000444759.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 349,
"cds_start": 836,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542344.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ala278Val",
"transcript": "ENST00000951465.1",
"protein_id": "ENSP00000621524.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 348,
"cds_start": 833,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951465.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "NM_001330232.2",
"protein_id": "NP_001317161.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 328,
"cds_start": 773,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330232.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "NM_001439290.1",
"protein_id": "NP_001426219.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 328,
"cds_start": 773,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439290.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000547773.5",
"protein_id": "ENSP00000448167.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 328,
"cds_start": 773,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547773.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000880562.1",
"protein_id": "ENSP00000550621.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 328,
"cds_start": 773,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880562.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Ala280Val",
"transcript": "ENST00000548044.5",
"protein_id": "ENSP00000449649.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 327,
"cds_start": 839,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"bayesdelnoaf_prediction": "Benign",
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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],
"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
}