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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: 10-246887-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=246887&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 246887,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000381604.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370100.5",
"protein_id": "NP_001357029.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "ENST00000381604.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "ENST00000381604.9",
"protein_id": "ENSP00000371017.6",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "NM_001370100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "ENST00000397962.8",
"protein_id": "ENSP00000381053.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "ENST00000558098.4",
"protein_id": "ENSP00000452959.1",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 568,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000509513.6",
"protein_id": "ENSP00000424205.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 567,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*1014C>T",
"hgvs_p": null,
"transcript": "ENST00000381584.6",
"protein_id": "ENSP00000370996.2",
"transcript_support_level": 1,
"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": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*1014C>T",
"hgvs_p": null,
"transcript": "ENST00000381584.6",
"protein_id": "ENSP00000370996.2",
"transcript_support_level": 1,
"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": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373*",
"transcript": "ENST00000397955.7",
"protein_id": "ENSP00000381046.3",
"transcript_support_level": 5,
"aa_start": 373,
"aa_end": null,
"aa_length": 617,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370097.3",
"protein_id": "NP_001357026.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370098.2",
"protein_id": "NP_001357027.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370099.2",
"protein_id": "NP_001357028.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370101.2",
"protein_id": "NP_001357030.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370102.2",
"protein_id": "NP_001357031.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_006624.7",
"protein_id": "NP_006615.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "ENST00000381591.5",
"protein_id": "ENSP00000371003.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "ENST00000704301.1",
"protein_id": "ENSP00000515825.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 602,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "NM_001370115.2",
"protein_id": "NP_001357044.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 601,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357*",
"transcript": "ENST00000627286.2",
"protein_id": "ENSP00000487386.2",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 601,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341*",
"transcript": "NM_001330057.3",
"protein_id": "NP_001316986.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 585,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1279,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341*",
"transcript": "NM_001370112.2",
"protein_id": "NP_001357041.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 585,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1006C>T",
"hgvs_p": "p.Arg336*",
"transcript": "NM_001370116.2",
"protein_id": "NP_001357045.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 580,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
"transcript": "NM_001370117.2",
"protein_id": "NP_001357046.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 579,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358*",
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{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Inborn genetic diseases|not provided|Intellectual disability, autosomal dominant 30",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}