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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: 12-121232473-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121232473&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121232473,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001256796.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "NM_002560.3",
"protein_id": "NP_002551.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 388,
"cds_start": 944,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337233.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002560.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "ENST00000337233.9",
"protein_id": "ENSP00000336607.4",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 388,
"cds_start": 944,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002560.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337233.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Tyr288Cys",
"transcript": "ENST00000542067.5",
"protein_id": "ENSP00000438329.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 360,
"cds_start": 863,
"cds_end": null,
"cds_length": 1084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542067.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*535A>G",
"hgvs_p": null,
"transcript": "ENST00000543318.5",
"protein_id": "ENSP00000444274.1",
"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": "ENST00000543318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*535A>G",
"hgvs_p": null,
"transcript": "ENST00000543318.5",
"protein_id": "ENSP00000444274.1",
"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": "ENST00000543318.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Tyr363Cys",
"transcript": "ENST00000966497.1",
"protein_id": "ENSP00000636556.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 436,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966497.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "ENST00000887511.1",
"protein_id": "ENSP00000557570.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 416,
"cds_start": 944,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887511.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "NM_001256796.2",
"protein_id": "NP_001243725.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 404,
"cds_start": 992,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256796.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Tyr331Cys",
"transcript": "ENST00000359949.11",
"protein_id": "ENSP00000353032.7",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 404,
"cds_start": 992,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359949.11"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.941A>G",
"hgvs_p": "p.Tyr314Cys",
"transcript": "ENST00000966496.1",
"protein_id": "ENSP00000636555.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 387,
"cds_start": 941,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966496.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Tyr311Cys",
"transcript": "ENST00000887513.1",
"protein_id": "ENSP00000557572.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 384,
"cds_start": 932,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887513.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Tyr309Cys",
"transcript": "ENST00000887514.1",
"protein_id": "ENSP00000557573.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 382,
"cds_start": 926,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887514.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Tyr309Cys",
"transcript": "ENST00000887515.1",
"protein_id": "ENSP00000557574.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 382,
"cds_start": 926,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887515.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.Tyr293Cys",
"transcript": "ENST00000887510.1",
"protein_id": "ENSP00000557569.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 366,
"cds_start": 878,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887510.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "ENST00000887512.1",
"protein_id": "ENSP00000557571.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 366,
"cds_start": 944,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887512.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Tyr288Cys",
"transcript": "NM_001261397.2",
"protein_id": "NP_001248326.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 361,
"cds_start": 863,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261397.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Tyr315Cys",
"transcript": "NM_001261398.2",
"protein_id": "NP_001248327.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 341,
"cds_start": 944,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261398.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "ENST00000887509.1",
"protein_id": "ENSP00000557568.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 268,
"cds_start": 584,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887509.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Tyr65Cys",
"transcript": "ENST00000917536.1",
"protein_id": "ENSP00000587595.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 138,
"cds_start": 194,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917536.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Tyr185Cys",
"transcript": "XM_011538416.3",
"protein_id": "XP_011536718.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 258,
"cds_start": 554,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538416.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.*90A>G",
"hgvs_p": null,
"transcript": "XM_047428910.1",
"protein_id": "XP_047284866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.358-138A>G",
"hgvs_p": null,
"transcript": "ENST00000917535.1",
"protein_id": "ENSP00000587594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
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}
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}