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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: 12-121228843-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121228843&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121228843,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000337233.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"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": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly",
"transcript": "NM_002560.3",
"protein_id": "NP_002551.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 388,
"cds_start": 724,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": "ENST00000337233.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly",
"transcript": "ENST00000337233.9",
"protein_id": "ENSP00000336607.4",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 388,
"cds_start": 724,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": "NM_002560.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Ser215Gly",
"transcript": "ENST00000542067.5",
"protein_id": "ENSP00000438329.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 360,
"cds_start": 643,
"cds_end": null,
"cds_length": 1084,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1084,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*315A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1429,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*315A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.772A>G",
"hgvs_p": "p.Ser258Gly",
"transcript": "NM_001256796.2",
"protein_id": "NP_001243725.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 404,
"cds_start": 772,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.772A>G",
"hgvs_p": "p.Ser258Gly",
"transcript": "ENST00000359949.11",
"protein_id": "ENSP00000353032.7",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 404,
"cds_start": 772,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Ser215Gly",
"transcript": "NM_001261397.2",
"protein_id": "NP_001248326.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 361,
"cds_start": 643,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly",
"transcript": "NM_001261398.2",
"protein_id": "NP_001248327.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 341,
"cds_start": 724,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Ser112Gly",
"transcript": "ENST00000538701.5",
"protein_id": "ENSP00000444033.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 144,
"cds_start": 334,
"cds_end": null,
"cds_length": 437,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.772A>G",
"hgvs_p": "p.Ser258Gly",
"transcript": "XM_047428910.1",
"protein_id": "XP_047284866.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 276,
"cds_start": 772,
"cds_end": null,
"cds_length": 831,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "c.334A>G",
"hgvs_p": "p.Ser112Gly",
"transcript": "XM_011538416.3",
"protein_id": "XP_011536718.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 258,
"cds_start": 334,
"cds_end": null,
"cds_length": 777,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1370,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.1717A>G",
"hgvs_p": null,
"transcript": "ENST00000499638.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 3145,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*186A>G",
"hgvs_p": null,
"transcript": "ENST00000538417.2",
"protein_id": "ENSP00000437396.1",
"transcript_support_level": 3,
"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": 866,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.473A>G",
"hgvs_p": null,
"transcript": "ENST00000541187.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 823,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.675A>G",
"hgvs_p": null,
"transcript": "ENST00000543430.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1436,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*417A>G",
"hgvs_p": null,
"transcript": "ENST00000543984.5",
"protein_id": "ENSP00000439386.1",
"transcript_support_level": 2,
"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": 1612,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.798A>G",
"hgvs_p": null,
"transcript": "NR_046372.2",
"protein_id": null,
"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": 1798,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.612A>G",
"hgvs_p": null,
"transcript": "NR_046373.2",
"protein_id": null,
"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": 1612,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*186A>G",
"hgvs_p": null,
"transcript": "ENST00000538417.2",
"protein_id": "ENSP00000437396.1",
"transcript_support_level": 3,
"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": 866,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*417A>G",
"hgvs_p": null,
"transcript": "ENST00000543984.5",
"protein_id": "ENSP00000439386.1",
"transcript_support_level": 2,
"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": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*32A>G",
"hgvs_p": null,
"transcript": "ENST00000397924.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX4",
"gene_hgnc_id": 8535,
"hgvs_c": "n.*229A>G",
"hgvs_p": null,
"transcript": "ENST00000540930.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 545,
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{
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000337233.9",
"gene_symbol": "P2RX4",
"hgnc_id": 8535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}