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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: 15-49621013-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49621013&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49621013,
"ref": "T",
"alt": "A",
"effect": "upstream_gene_variant",
"transcript": "ENST00000403028.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-386A>T",
"hgvs_p": null,
"transcript": "NM_152647.3",
"protein_id": "NP_689860.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "ENST00000299338.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-386A>T",
"hgvs_p": null,
"transcript": "ENST00000299338.11",
"protein_id": "ENSP00000299338.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "NM_152647.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-165T>A",
"hgvs_p": null,
"transcript": "NM_001144955.2",
"protein_id": "NP_001138427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13699,
"mane_select": "ENST00000403028.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-165T>A",
"hgvs_p": null,
"transcript": "ENST00000403028.8",
"protein_id": "ENSP00000385399.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13699,
"mane_select": "NM_001144955.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-293T>A",
"hgvs_p": null,
"transcript": "ENST00000251250.7",
"protein_id": "ENSP00000251250.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-455A>T",
"hgvs_p": null,
"transcript": "ENST00000561064.5",
"protein_id": "ENSP00000453028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "n.-165T>A",
"hgvs_p": null,
"transcript": "ENST00000557968.5",
"protein_id": "ENSP00000452628.1",
"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": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "n.-165T>A",
"hgvs_p": null,
"transcript": "ENST00000557988.5",
"protein_id": "ENSP00000453686.1",
"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": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-455A>T",
"hgvs_p": null,
"transcript": "NM_001330293.2",
"protein_id": "NP_001317222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-293T>A",
"hgvs_p": null,
"transcript": "NM_020234.6",
"protein_id": "NP_064619.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-236T>A",
"hgvs_p": null,
"transcript": "ENST00000558653.5",
"protein_id": "ENSP00000453529.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
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"cdna_length": 1131,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-165T>A",
"hgvs_p": null,
"transcript": "ENST00000559164.5",
"protein_id": "ENSP00000453071.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 192,
"cds_start": -4,
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"cds_length": 580,
"cdna_start": null,
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"cdna_length": 678,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-455A>T",
"hgvs_p": null,
"transcript": "ENST00000560246.1",
"protein_id": "ENSP00000454081.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 178,
"cds_start": -4,
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"cds_length": 537,
"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-443A>T",
"hgvs_p": null,
"transcript": "ENST00000558594.5",
"protein_id": "ENSP00000452616.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-165T>A",
"hgvs_p": null,
"transcript": "ENST00000560632.5",
"protein_id": "ENSP00000453649.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "c.-372T>A",
"hgvs_p": null,
"transcript": "ENST00000559405.5",
"protein_id": "ENSP00000452685.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.-197A>T",
"hgvs_p": null,
"transcript": "ENST00000557892.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.-191A>T",
"hgvs_p": null,
"transcript": "ENST00000558615.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 918,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.-116A>T",
"hgvs_p": null,
"transcript": "ENST00000558862.2",
"protein_id": null,
"transcript_support_level": 2,
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "n.-32T>A",
"hgvs_p": null,
"transcript": "ENST00000559223.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "n.-67T>A",
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"transcript": "ENST00000560735.5",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTWD1",
"gene_hgnc_id": 30926,
"hgvs_c": "n.-56T>A",
"hgvs_p": null,
"transcript": "ENST00000561188.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-455A>T",
"hgvs_p": null,
"transcript": "XM_005254213.4",
"protein_id": "XP_005254270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
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"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
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],
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"computational_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
"score": -2,
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],
"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}