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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: 12-6652690-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6652690&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6652690,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001127582.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Ala157Pro",
"transcript": "NM_016162.4",
"protein_id": "NP_057246.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 248,
"cds_start": 469,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341550.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016162.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Ala157Pro",
"transcript": "ENST00000341550.9",
"protein_id": "ENSP00000343396.4",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 248,
"cds_start": 469,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016162.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341550.9"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Ala158Pro",
"transcript": "ENST00000396807.8",
"protein_id": "ENSP00000380024.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 249,
"cds_start": 472,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396807.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.463G>C",
"hgvs_p": "p.Ala155Pro",
"transcript": "ENST00000412586.6",
"protein_id": "ENSP00000412705.2",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 246,
"cds_start": 463,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412586.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Ala154Pro",
"transcript": "ENST00000446105.6",
"protein_id": "ENSP00000415903.2",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 245,
"cds_start": 460,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446105.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Ala134Pro",
"transcript": "ENST00000444704.5",
"protein_id": "ENSP00000397343.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 225,
"cds_start": 400,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444704.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Ala158Pro",
"transcript": "ENST00000423703.6",
"protein_id": "ENSP00000414008.2",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 179,
"cds_start": 472,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423703.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.*149G>C",
"hgvs_p": null,
"transcript": "ENST00000619641.4",
"protein_id": "ENSP00000480978.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619641.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Ala158Pro",
"transcript": "NM_001127582.2",
"protein_id": "NP_001121054.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 249,
"cds_start": 472,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127582.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Ala158Pro",
"transcript": "ENST00000906760.1",
"protein_id": "ENSP00000576819.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 248,
"cds_start": 472,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906760.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Ala157Pro",
"transcript": "ENST00000906761.1",
"protein_id": "ENSP00000576820.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 247,
"cds_start": 469,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906761.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.463G>C",
"hgvs_p": "p.Ala155Pro",
"transcript": "NM_001127583.2",
"protein_id": "NP_001121055.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 246,
"cds_start": 463,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127583.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Ala154Pro",
"transcript": "NM_001127584.2",
"protein_id": "NP_001121056.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 245,
"cds_start": 460,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127584.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Ala154Pro",
"transcript": "ENST00000906762.1",
"protein_id": "ENSP00000576821.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 244,
"cds_start": 460,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906762.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "ENST00000906764.1",
"protein_id": "ENSP00000576823.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 237,
"cds_start": 436,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906764.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Ala145Pro",
"transcript": "ENST00000906763.1",
"protein_id": "ENSP00000576822.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 236,
"cds_start": 433,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906763.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Ala134Pro",
"transcript": "NM_001127585.2",
"protein_id": "NP_001121057.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 225,
"cds_start": 400,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127585.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.397G>C",
"hgvs_p": "p.Ala133Pro",
"transcript": "ENST00000906759.1",
"protein_id": "ENSP00000576818.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 224,
"cds_start": 397,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906759.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.391G>C",
"hgvs_p": "p.Ala131Pro",
"transcript": "ENST00000906758.1",
"protein_id": "ENSP00000576817.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 222,
"cds_start": 391,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906758.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.388G>C",
"hgvs_p": "p.Ala130Pro",
"transcript": "ENST00000906757.1",
"protein_id": "ENSP00000576816.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 221,
"cds_start": 388,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906757.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Ala158Pro",
"transcript": "NM_001127586.2",
"protein_id": "NP_001121058.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 179,
"cds_start": 472,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127586.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING4",
"gene_hgnc_id": 19423,
"hgvs_c": "c.397G>C",
"hgvs_p": "p.Ala133Pro",
"transcript": "XM_011520964.3",
"protein_id": "XP_011519266.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 224,
"cds_start": 397,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520964.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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{
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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
}