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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: 3-195306602-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195306602&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195306602,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012287.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "NM_012287.6",
"protein_id": "NP_036419.3",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 778,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326793.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012287.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000326793.11",
"protein_id": "ENSP00000324287.6",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 778,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326793.11"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1109A>C",
"hgvs_p": "p.Gln370Pro",
"transcript": "ENST00000867120.1",
"protein_id": "ENSP00000537179.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 841,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867120.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000867114.1",
"protein_id": "ENSP00000537173.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 813,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867114.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000450200.2",
"protein_id": "ENSP00000412338.2",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 808,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450200.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1109A>C",
"hgvs_p": "p.Gln370Pro",
"transcript": "ENST00000867112.1",
"protein_id": "ENSP00000537171.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 806,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867112.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1040A>C",
"hgvs_p": "p.Gln347Pro",
"transcript": "ENST00000957235.1",
"protein_id": "ENSP00000627294.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 783,
"cds_start": 1040,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957235.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000867115.1",
"protein_id": "ENSP00000537174.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 777,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867115.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000867116.1",
"protein_id": "ENSP00000537175.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 777,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867116.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000957234.1",
"protein_id": "ENSP00000627293.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 777,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957234.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1001A>C",
"hgvs_p": "p.Gln334Pro",
"transcript": "ENST00000867117.1",
"protein_id": "ENSP00000537176.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 770,
"cds_start": 1001,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867117.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.884A>C",
"hgvs_p": "p.Gln295Pro",
"transcript": "ENST00000912823.1",
"protein_id": "ENSP00000582882.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 766,
"cds_start": 884,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912823.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.980A>C",
"hgvs_p": "p.Gln327Pro",
"transcript": "ENST00000912824.1",
"protein_id": "ENSP00000582883.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 763,
"cds_start": 980,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912824.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.971A>C",
"hgvs_p": "p.Gln324Pro",
"transcript": "ENST00000867113.1",
"protein_id": "ENSP00000537172.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 760,
"cds_start": 971,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867113.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.950A>C",
"hgvs_p": "p.Gln317Pro",
"transcript": "ENST00000957238.1",
"protein_id": "ENSP00000627297.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 753,
"cds_start": 950,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957238.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.929A>C",
"hgvs_p": "p.Gln310Pro",
"transcript": "ENST00000867119.1",
"protein_id": "ENSP00000537178.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 746,
"cds_start": 929,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867119.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.851A>C",
"hgvs_p": "p.Gln284Pro",
"transcript": "ENST00000867118.1",
"protein_id": "ENSP00000537177.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 720,
"cds_start": 851,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867118.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.809A>C",
"hgvs_p": "p.Gln270Pro",
"transcript": "ENST00000957236.1",
"protein_id": "ENSP00000627295.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 706,
"cds_start": 809,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957236.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Gln342Pro",
"transcript": "ENST00000957237.1",
"protein_id": "ENSP00000627296.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 685,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957237.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Gln349Pro",
"transcript": "ENST00000635383.1",
"protein_id": "ENSP00000489156.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 546,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635383.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.647A>C",
"hgvs_p": "p.Gln216Pro",
"transcript": "ENST00000439758.3",
"protein_id": "ENSP00000413388.1",
"transcript_support_level": 4,
"aa_start": 216,
"aa_end": null,
"aa_length": 254,
"cds_start": 647,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439758.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1130A>C",
"hgvs_p": "p.Gln377Pro",
"transcript": "XM_017006046.2",
"protein_id": "XP_016861535.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 848,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 4,
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],
"verdict": "Uncertain_significance",
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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
}