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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: 22-21023361-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21023361&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 21023361,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000413302.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "NM_005446.5",
"protein_id": "NP_005437.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 441,
"cds_start": 725,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": "ENST00000413302.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000413302.7",
"protein_id": "ENSP00000416193.2",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 441,
"cds_start": 725,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": "NM_005446.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216His",
"transcript": "ENST00000401443.5",
"protein_id": "ENSP00000385309.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 415,
"cds_start": 647,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.*256G>A",
"hgvs_p": null,
"transcript": "ENST00000422210.5",
"protein_id": "ENSP00000407920.1",
"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": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.*315G>A",
"hgvs_p": null,
"transcript": "ENST00000432930.5",
"protein_id": "ENSP00000404223.1",
"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": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.*256G>A",
"hgvs_p": null,
"transcript": "ENST00000442475.5",
"protein_id": "ENSP00000401192.1",
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.*256G>A",
"hgvs_p": null,
"transcript": "ENST00000422210.5",
"protein_id": "ENSP00000407920.1",
"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": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.*315G>A",
"hgvs_p": null,
"transcript": "ENST00000432930.5",
"protein_id": "ENSP00000404223.1",
"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": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.*256G>A",
"hgvs_p": null,
"transcript": "ENST00000442475.5",
"protein_id": "ENSP00000401192.1",
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291240",
"gene_hgnc_id": null,
"hgvs_c": "n.1732+5975C>T",
"hgvs_p": null,
"transcript": "ENST00000706202.1",
"protein_id": "ENSP00000516280.1",
"transcript_support_level": null,
"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": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "NM_001394691.1",
"protein_id": "NP_001381620.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 473,
"cds_start": 725,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "NM_001394692.1",
"protein_id": "NP_001381621.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 419,
"cds_start": 725,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "NM_001394693.1",
"protein_id": "NP_001381622.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 417,
"cds_start": 653,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216His",
"transcript": "NM_001159554.2",
"protein_id": "NP_001153026.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 415,
"cds_start": 647,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "NM_001394694.1",
"protein_id": "NP_001381623.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 391,
"cds_start": 575,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216His",
"transcript": "NM_001394695.1",
"protein_id": "NP_001381624.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 389,
"cds_start": 647,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91His",
"transcript": "NM_001349876.2",
"protein_id": "NP_001336805.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 322,
"cds_start": 272,
"cds_end": null,
"cds_length": 969,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91His",
"transcript": "NM_001349874.2",
"protein_id": "NP_001336803.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 290,
"cds_start": 272,
"cds_end": null,
"cds_length": 873,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91His",
"transcript": "NM_001349875.2",
"protein_id": "NP_001336804.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 290,
"cds_start": 272,
"cds_end": null,
"cds_length": 873,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91His",
"transcript": "NM_001394696.1",
"protein_id": "NP_001381625.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 290,
"cds_start": 272,
"cds_end": null,
"cds_length": 873,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91His",
"transcript": "NM_001394697.1",
"protein_id": "NP_001381626.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 290,
"cds_start": 272,
"cds_end": null,
"cds_length": 873,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_011530498.3",
"protein_id": "XP_011528800.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 539,
"cds_start": 725,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "XM_011530499.3",
"protein_id": "XP_011528801.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
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