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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: 13-77613943-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77613943&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77613943,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000349847.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1439A>C",
"hgvs_p": "p.Lys480Thr",
"transcript": "NM_144777.3",
"protein_id": "NP_659001.2",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 688,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": "ENST00000349847.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1439A>C",
"hgvs_p": "p.Lys480Thr",
"transcript": "ENST00000349847.4",
"protein_id": "ENSP00000302579.5",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 688,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": "NM_144777.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1379A>C",
"hgvs_p": "p.Lys460Thr",
"transcript": "ENST00000377246.7",
"protein_id": "ENSP00000366454.3",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 668,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1379A>C",
"hgvs_p": "p.Lys460Thr",
"transcript": "NM_003843.4",
"protein_id": "NP_003834.3",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 668,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1313A>C",
"hgvs_p": "p.Lys438Thr",
"transcript": "NM_001160706.2",
"protein_id": "NP_001154178.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 646,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1313A>C",
"hgvs_p": "p.Lys438Thr",
"transcript": "ENST00000535157.5",
"protein_id": "ENSP00000437895.1",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 646,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1436A>C",
"hgvs_p": "p.Lys479Thr",
"transcript": "XM_011535281.2",
"protein_id": "XP_011533583.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 687,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1436A>C",
"hgvs_p": "p.Lys479Thr",
"transcript": "XM_011535282.2",
"protein_id": "XP_011533584.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 687,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1436A>C",
"hgvs_p": "p.Lys479Thr",
"transcript": "XM_011535283.2",
"protein_id": "XP_011533585.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 687,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.Lys478Thr",
"transcript": "XM_011535284.2",
"protein_id": "XP_011533586.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 686,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1400A>C",
"hgvs_p": "p.Lys467Thr",
"transcript": "XM_011535285.3",
"protein_id": "XP_011533587.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 675,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1379A>C",
"hgvs_p": "p.Lys460Thr",
"transcript": "XM_006719882.2",
"protein_id": "XP_006719945.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 668,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1379A>C",
"hgvs_p": "p.Lys460Thr",
"transcript": "XM_011535286.2",
"protein_id": "XP_011533588.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 668,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1376A>C",
"hgvs_p": "p.Lys459Thr",
"transcript": "XM_011535287.2",
"protein_id": "XP_011533589.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 667,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1376A>C",
"hgvs_p": "p.Lys459Thr",
"transcript": "XM_047430709.1",
"protein_id": "XP_047286665.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 667,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1376A>C",
"hgvs_p": "p.Lys459Thr",
"transcript": "XM_047430710.1",
"protein_id": "XP_047286666.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 667,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1373A>C",
"hgvs_p": "p.Lys458Thr",
"transcript": "XM_006719884.2",
"protein_id": "XP_006719947.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 666,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1370A>C",
"hgvs_p": "p.Lys457Thr",
"transcript": "XM_005266578.2",
"protein_id": "XP_005266635.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 665,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1370A>C",
"hgvs_p": "p.Lys457Thr",
"transcript": "XM_047430711.1",
"protein_id": "XP_047286667.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 665,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Lys444Thr",
"transcript": "XM_011535288.2",
"protein_id": "XP_011533590.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 652,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.Lys440Thr",
"transcript": "XM_006719885.2",
"protein_id": "XP_006719948.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 648,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.Lys440Thr",
"transcript": "XM_047430712.1",
"protein_id": "XP_047286668.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 648,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.1316A>C",
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"transcript": "XM_011535289.2",
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{
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}