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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": "ENST00000339157.10",
"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": 1186,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": "ENST00000339157.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1186,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": "NM_001042472.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1186,
"cdna_end": null,
"cdna_length": 1577,
"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": 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": 1186,
"cdna_end": null,
"cdna_length": 1577,
"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": 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": 508,
"cdna_end": null,
"cdna_length": 1599,
"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": 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": 917,
"cdna_end": null,
"cdna_length": 1202,
"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": 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": 1476,
"cdna_end": null,
"cdna_length": 2035,
"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": 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": 508,
"cdna_end": null,
"cdna_length": 1394,
"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": 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": 508,
"cdna_end": null,
"cdna_length": 1325,
"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": 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": 508,
"cdna_end": null,
"cdna_length": 1326,
"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": 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": 1186,
"cdna_end": null,
"cdna_length": 2007,
"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": 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": 989,
"cdna_end": null,
"cdna_length": 1763,
"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": 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": 916,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 429,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"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": "n.508C>T",
"hgvs_p": null,
"transcript": "ENST00000465694.2",
"protein_id": "ENSP00000459278.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.*62C>T",
"hgvs_p": null,
"transcript": "ENST00000672331.1",
"protein_id": "ENSP00000500286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"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": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000672406.1",
"protein_id": "ENSP00000500208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"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": "n.*186C>T",
"hgvs_p": null,
"transcript": "ENST00000673524.1",
"protein_id": "ENSP00000500316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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": "n.*62C>T",
"hgvs_p": null,
"transcript": "ENST00000672331.1",
"protein_id": "ENSP00000500286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"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": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000672406.1",
"protein_id": "ENSP00000500208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"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": "n.*186C>T",
"hgvs_p": null,
"transcript": "ENST00000673524.1",
"protein_id": "ENSP00000500316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.*976C>T",
"hgvs_p": null,
"transcript": "XM_047440087.1",
"protein_id": "XP_047296043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.*976C>T",
"hgvs_p": null,
"transcript": "XM_047440088.1",
"protein_id": "XP_047296044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
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],
"clinvar_disease": "PHARC syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "PHARC syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}