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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: 22-21022680-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21022680&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 21022680,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394691.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "NM_005446.5",
"protein_id": "NP_005437.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 441,
"cds_start": 392,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000413302.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005446.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000413302.7",
"protein_id": "ENSP00000416193.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 441,
"cds_start": 392,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005446.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413302.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000401443.5",
"protein_id": "ENSP00000385309.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 415,
"cds_start": 314,
"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": "ENST00000401443.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.375C>T",
"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": 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": "ENST00000432930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.301-262C>T",
"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": 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": "ENST00000422210.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "n.238-262C>T",
"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": 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": "ENST00000442475.5"
},
{
"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+6656G>A",
"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": 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": "ENST00000706202.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "NM_001394691.1",
"protein_id": "NP_001381620.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 473,
"cds_start": 392,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394691.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "NM_001394692.1",
"protein_id": "NP_001381621.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 419,
"cds_start": 392,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394692.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000958116.1",
"protein_id": "ENSP00000628175.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 419,
"cds_start": 392,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958116.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Pro107Leu",
"transcript": "NM_001394693.1",
"protein_id": "NP_001381622.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 417,
"cds_start": 320,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394693.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001159554.2",
"protein_id": "NP_001153026.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 415,
"cds_start": 314,
"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_001159554.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000958113.1",
"protein_id": "ENSP00000628172.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 415,
"cds_start": 392,
"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": "ENST00000958113.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000958110.1",
"protein_id": "ENSP00000628169.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 393,
"cds_start": 392,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958110.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000958117.1",
"protein_id": "ENSP00000628176.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 393,
"cds_start": 314,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958117.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Pro81Leu",
"transcript": "NM_001394694.1",
"protein_id": "NP_001381623.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 391,
"cds_start": 242,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394694.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001394695.1",
"protein_id": "NP_001381624.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 389,
"cds_start": 314,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394695.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000958114.1",
"protein_id": "ENSP00000628173.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 388,
"cds_start": 314,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958114.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000958111.1",
"protein_id": "ENSP00000628170.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 367,
"cds_start": 314,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958111.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000880818.1",
"protein_id": "ENSP00000550877.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 366,
"cds_start": 392,
"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": "ENST00000880818.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "XM_011530498.3",
"protein_id": "XP_011528800.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 539,
"cds_start": 392,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530498.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Pro107Leu",
"transcript": "XM_011530499.3",
"protein_id": "XP_011528801.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 515,
"cds_start": 320,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530499.3"
},
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"gene_hgnc_id": 8538,
"hgvs_c": "n.*87-262C>T",
"hgvs_p": null,
"transcript": "ENST00000452228.5",
"protein_id": "ENSP00000398347.1",
"transcript_support_level": 3,
"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": "ENST00000452228.5"
}
],
"gene_symbol": "P2RX6",
"gene_hgnc_id": 8538,
"dbsnp": "rs200740801",
"frequency_reference_population": 0.000015430453,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.000014253,
"gnomad_genomes_af": 0.0000262902,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4151165187358856,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.2904,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.798,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001394691.1",
"gene_symbol": "P2RX6",
"hgnc_id": 8538,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000706202.1",
"gene_symbol": "ENSG00000291240",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1732+6656G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}