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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: 14-74290100-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74290100&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74290100,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000356924.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1346C>A",
"hgvs_p": "p.Thr449Lys",
"transcript": "NM_005050.4",
"protein_id": "NP_005041.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 606,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": "ENST00000356924.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1346C>A",
"hgvs_p": "p.Thr449Lys",
"transcript": "ENST00000356924.9",
"protein_id": "ENSP00000349396.4",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 606,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": "NM_005050.4",
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*1047C>A",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"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": 1842,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "n.*1047C>A",
"hgvs_p": null,
"transcript": "ENST00000553486.5",
"protein_id": "ENSP00000450611.1",
"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": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1346C>A",
"hgvs_p": "p.Thr449Lys",
"transcript": "NM_020325.3",
"protein_id": "NP_064730.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 592,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1346C>A",
"hgvs_p": "p.Thr449Lys",
"transcript": "NM_001440752.1",
"protein_id": "NP_001427681.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 572,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1220C>A",
"hgvs_p": "p.Thr407Lys",
"transcript": "NM_001353591.2",
"protein_id": "NP_001340520.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 564,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1220C>A",
"hgvs_p": "p.Thr407Lys",
"transcript": "NM_001353592.2",
"protein_id": "NP_001340521.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 550,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1346C>A",
"hgvs_p": "p.Thr449Lys",
"transcript": "NM_001440753.1",
"protein_id": "NP_001427682.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 528,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1085C>A",
"hgvs_p": "p.Thr362Lys",
"transcript": "NM_001353593.2",
"protein_id": "NP_001340522.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 519,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1073C>A",
"hgvs_p": "p.Thr358Lys",
"transcript": "NM_001440754.1",
"protein_id": "NP_001427683.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 515,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.1034C>A",
"hgvs_p": "p.Thr345Lys",
"transcript": "NM_001353594.2",
"protein_id": "NP_001340523.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 488,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Lys",
"transcript": "NM_001353595.2",
"protein_id": "NP_001340524.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 468,
"cds_start": 932,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Lys",
"transcript": "NM_001353596.2",
"protein_id": "NP_001340525.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 468,
"cds_start": 932,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.881C>A",
"hgvs_p": "p.Thr294Lys",
"transcript": "NM_001353597.2",
"protein_id": "NP_001340526.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 451,
"cds_start": 881,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Thr290Lys",
"transcript": "NM_001353598.2",
"protein_id": "NP_001340527.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 447,
"cds_start": 869,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Thr290Lys",
"transcript": "NM_001440755.1",
"protein_id": "NP_001427684.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 447,
"cds_start": 869,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Thr290Lys",
"transcript": "NM_020324.3",
"protein_id": "NP_064720.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 447,
"cds_start": 869,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Thr290Lys",
"transcript": "NM_001353599.2",
"protein_id": "NP_001340528.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 433,
"cds_start": 869,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Thr290Lys",
"transcript": "NM_001353600.2",
"protein_id": "NP_001340529.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 433,
"cds_start": 869,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Thr290Lys",
"transcript": "NM_001353601.2",
"protein_id": "NP_001340530.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 433,
"cds_start": 869,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Thr186Lys",
"transcript": "NM_001353602.2",
"protein_id": "NP_001340531.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 343,
"cds_start": 557,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD4",
"gene_hgnc_id": 68,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Thr186Lys",
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"message": null
}