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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: 11-74848401-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74848401&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 74848401,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378157.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "NM_001378157.1",
"protein_id": "NP_001365086.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 800,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684022.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378157.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "ENST00000684022.1",
"protein_id": "ENSP00000507107.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 800,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378157.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684022.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1157C>G",
"hgvs_p": "p.Thr386Arg",
"transcript": "ENST00000527087.5",
"protein_id": "ENSP00000435838.1",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 598,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527087.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.593C>G",
"hgvs_p": "p.Thr198Arg",
"transcript": "ENST00000321448.12",
"protein_id": "ENSP00000319303.8",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 517,
"cds_start": 593,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321448.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "n.*204C>G",
"hgvs_p": null,
"transcript": "ENST00000531449.5",
"protein_id": "ENSP00000432689.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531449.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "n.*204C>G",
"hgvs_p": null,
"transcript": "ENST00000531449.5",
"protein_id": "ENSP00000432689.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531449.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1595C>G",
"hgvs_p": "p.Thr532Arg",
"transcript": "ENST00000705661.1",
"protein_id": "ENSP00000516156.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 851,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705661.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Thr473Arg",
"transcript": "NM_182969.4",
"protein_id": "NP_892014.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 792,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182969.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Thr473Arg",
"transcript": "ENST00000340360.10",
"protein_id": "ENSP00000339918.6",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
"aa_length": 792,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340360.10"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1397C>G",
"hgvs_p": "p.Thr466Arg",
"transcript": "NM_001378158.1",
"protein_id": "NP_001365087.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 785,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378158.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1106C>G",
"hgvs_p": "p.Thr369Arg",
"transcript": "NM_001378159.1",
"protein_id": "NP_001365088.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 688,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378159.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1157C>G",
"hgvs_p": "p.Thr386Arg",
"transcript": "NM_001270380.3",
"protein_id": "NP_001257309.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 598,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270380.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.1106C>G",
"hgvs_p": "p.Thr369Arg",
"transcript": "NM_001378160.1",
"protein_id": "NP_001365089.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 581,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378160.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.593C>G",
"hgvs_p": "p.Thr198Arg",
"transcript": "NM_001270381.3",
"protein_id": "NP_001257310.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 517,
"cds_start": 593,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270381.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.548C>G",
"hgvs_p": "p.Thr183Arg",
"transcript": "NM_001378161.1",
"protein_id": "NP_001365090.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 502,
"cds_start": 548,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378161.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.458C>G",
"hgvs_p": "p.Thr153Arg",
"transcript": "NM_001378162.1",
"protein_id": "NP_001365091.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 472,
"cds_start": 458,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378162.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.383C>G",
"hgvs_p": "p.Thr128Arg",
"transcript": "NM_001378163.1",
"protein_id": "NP_001365092.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 447,
"cds_start": 383,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378163.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.383C>G",
"hgvs_p": "p.Thr128Arg",
"transcript": "NM_001378164.1",
"protein_id": "NP_001365093.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 447,
"cds_start": 383,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378164.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Thr96Arg",
"transcript": "NM_001378165.1",
"protein_id": "NP_001365094.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 415,
"cds_start": 287,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378165.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Thr96Arg",
"transcript": "NM_001378166.1",
"protein_id": "NP_001365095.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 415,
"cds_start": 287,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378166.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Thr96Arg",
"transcript": "NM_001378167.1",
"protein_id": "NP_001365096.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 415,
"cds_start": 287,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378167.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRRA1",
"gene_hgnc_id": 18868,
"hgvs_c": "c.593C>G",
"hgvs_p": "p.Thr198Arg",
"transcript": "NM_001378168.1",
"protein_id": "NP_001365097.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 410,
"cds_start": 593,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}