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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: 11-406483-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=406483&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 406483,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000431843.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "NM_001135054.2",
"protein_id": "NP_001128526.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": "ENST00000431843.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000431843.7",
"protein_id": "ENSP00000403104.2",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": "NM_001135054.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000397632.7",
"protein_id": "ENSP00000380756.3",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.-56A>T",
"hgvs_p": null,
"transcript": "ENST00000714411.1",
"protein_id": "ENSP00000519681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.-56A>T",
"hgvs_p": null,
"transcript": "ENST00000714412.1",
"protein_id": "ENSP00000519682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.-56A>T",
"hgvs_p": null,
"transcript": "ENST00000714414.1",
"protein_id": "ENSP00000519684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.-56A>T",
"hgvs_p": null,
"transcript": "ENST00000714415.1",
"protein_id": "ENSP00000519685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000531205.5",
"protein_id": "ENSP00000433022.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 504,
"cds_start": 935,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000528845.6",
"protein_id": "ENSP00000434164.2",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 479,
"cds_start": 935,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.968A>T",
"hgvs_p": "p.Gln323Leu",
"transcript": "ENST00000528058.2",
"protein_id": "ENSP00000431698.2",
"transcript_support_level": 4,
"aa_start": 323,
"aa_end": null,
"aa_length": 421,
"cds_start": 968,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "NM_001135053.2",
"protein_id": "NP_001128525.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "NM_021805.3",
"protein_id": "NP_068577.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000332725.7",
"protein_id": "ENSP00000333656.3",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000714413.1",
"protein_id": "ENSP00000519683.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "ENST00000714416.1",
"protein_id": "ENSP00000519686.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 935,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.767A>T",
"hgvs_p": "p.Gln256Leu",
"transcript": "ENST00000530494.2",
"protein_id": "ENSP00000434030.2",
"transcript_support_level": 3,
"aa_start": 256,
"aa_end": null,
"aa_length": 354,
"cds_start": 767,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Gln208Leu",
"transcript": "ENST00000528209.6",
"protein_id": "ENSP00000435135.2",
"transcript_support_level": 3,
"aa_start": 208,
"aa_end": null,
"aa_length": 306,
"cds_start": 623,
"cds_end": null,
"cds_length": 921,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "XM_005253045.1",
"protein_id": "XP_005253102.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 504,
"cds_start": 935,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "XM_005253046.2",
"protein_id": "XP_005253103.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 504,
"cds_start": 935,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "XM_047427387.1",
"protein_id": "XP_047283343.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 479,
"cds_start": 935,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Gln312Leu",
"transcript": "XM_047427388.1",
"protein_id": "XP_047283344.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 479,
"cds_start": 935,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGIRR",
"gene_hgnc_id": 30575,
"hgvs_c": "c.784A>T",
"hgvs_p": "p.Ser262Cys",
"transcript": "XM_047427389.1",
"protein_id": "XP_047283345.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 281,
"cds_start": 784,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1175,
"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": 9,
"intron_rank": null,
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}
],
"message": null
}