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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: 20-25302322-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25302322&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25302322,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_015600.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352*",
"transcript": "NM_001042472.3",
"protein_id": "NP_001035937.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 398,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339157.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042472.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352*",
"transcript": "ENST00000339157.10",
"protein_id": "ENSP00000341408.5",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 398,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042472.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339157.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352*",
"transcript": "ENST00000376542.8",
"protein_id": "ENSP00000365725.3",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 404,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376542.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372*",
"transcript": "ENST00000969645.1",
"protein_id": "ENSP00000639704.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 418,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969645.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352*",
"transcript": "NM_015600.5",
"protein_id": "NP_056415.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 404,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015600.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Arg348*",
"transcript": "ENST00000851165.1",
"protein_id": "ENSP00000521224.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 394,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851165.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342*",
"transcript": "ENST00000938982.1",
"protein_id": "ENSP00000609041.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 388,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938982.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324*",
"transcript": "ENST00000938980.1",
"protein_id": "ENSP00000609039.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 370,
"cds_start": 970,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938980.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296*",
"transcript": "ENST00000969644.1",
"protein_id": "ENSP00000639703.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 342,
"cds_start": 886,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969644.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251*",
"transcript": "ENST00000851164.1",
"protein_id": "ENSP00000521223.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851164.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"transcript": "ENST00000671858.1",
"protein_id": "ENSP00000500550.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 295,
"cds_start": 508,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671858.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243*",
"transcript": "ENST00000938981.1",
"protein_id": "ENSP00000609040.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 289,
"cds_start": 727,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938981.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204*",
"transcript": "ENST00000673121.1",
"protein_id": "ENSP00000499839.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 250,
"cds_start": 610,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673121.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195*",
"transcript": "ENST00000672566.1",
"protein_id": "ENSP00000500106.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 241,
"cds_start": 583,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672566.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"transcript": "ENST00000672358.1",
"protein_id": "ENSP00000500062.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 228,
"cds_start": 508,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672358.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"transcript": "ENST00000672596.1",
"protein_id": "ENSP00000500290.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 227,
"cds_start": 508,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672596.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176*",
"transcript": "ENST00000851166.1",
"protein_id": "ENSP00000521225.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 222,
"cds_start": 526,
"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": "ENST00000851166.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"transcript": "ENST00000673227.1",
"protein_id": "ENSP00000500514.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 210,
"cds_start": 508,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673227.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352*",
"transcript": "XM_011529214.3",
"protein_id": "XP_011527516.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 392,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529214.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307*",
"transcript": "XM_047440089.1",
"protein_id": "XP_047296045.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 353,
"cds_start": 919,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440089.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195*",
"transcript": "XM_047440093.1",
"protein_id": "XP_047296049.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 241,
"cds_start": 583,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440093.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.429C>T",
"hgvs_p": "p.Leu143Leu",
"transcript": "ENST00000671784.1",
"protein_id": "ENSP00000500451.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 176,
"cds_start": 429,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671784.1"
},
{
"aa_ref": null,
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"phenotype_combined": "PHARC syndrome|not provided",
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}
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}