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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: 19-38222652-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38222652&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38222652,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001289978.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "NM_001135155.3",
"protein_id": "NP_001128627.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 387,
"cds_start": 86,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355526.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135155.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000355526.10",
"protein_id": "ENSP00000347716.5",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 387,
"cds_start": 86,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135155.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355526.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000614244.4",
"protein_id": "ENSP00000483226.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 397,
"cds_start": 86,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614244.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000420980.8",
"protein_id": "ENSP00000397354.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 353,
"cds_start": 86,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420980.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.-80G>A",
"hgvs_p": null,
"transcript": "ENST00000412732.5",
"protein_id": "ENSP00000412098.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "n.84G>A",
"hgvs_p": null,
"transcript": "ENST00000418517.5",
"protein_id": "ENSP00000408201.1",
"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": "ENST00000418517.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000686058.1",
"protein_id": "ENSP00000510785.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 435,
"cds_start": 200,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686058.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000689228.1",
"protein_id": "ENSP00000510614.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 414,
"cds_start": 167,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689228.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000915612.1",
"protein_id": "ENSP00000585671.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 401,
"cds_start": 86,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915612.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30His",
"transcript": "ENST00000416611.5",
"protein_id": "ENSP00000390223.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 398,
"cds_start": 89,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416611.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "NM_001289978.2",
"protein_id": "NP_001276907.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 397,
"cds_start": 86,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289978.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000880213.1",
"protein_id": "ENSP00000550272.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 391,
"cds_start": 86,
"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": "ENST00000880213.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30His",
"transcript": "NM_001363579.1",
"protein_id": "NP_001350508.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 388,
"cds_start": 89,
"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": "NM_001363579.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30His",
"transcript": "ENST00000456296.5",
"protein_id": "ENSP00000411569.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 388,
"cds_start": 89,
"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": "ENST00000456296.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000915611.1",
"protein_id": "ENSP00000585670.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 385,
"cds_start": 86,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915611.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000915614.1",
"protein_id": "ENSP00000585673.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 378,
"cds_start": 86,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915614.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000880212.1",
"protein_id": "ENSP00000550271.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 370,
"cds_start": 86,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880212.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"transcript": "ENST00000915613.1",
"protein_id": "ENSP00000585672.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 359,
"cds_start": 143,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915613.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "NM_004647.4",
"protein_id": "NP_004638.3",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 353,
"cds_start": 86,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004647.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000915610.1",
"protein_id": "ENSP00000585669.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 343,
"cds_start": 86,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915610.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30His",
"transcript": "XM_006723407.3",
"protein_id": "XP_006723470.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 398,
"cds_start": 89,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723407.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPF1",
"gene_hgnc_id": 20225,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Arg30His",
"transcript": "XM_006723408.4",
"protein_id": "XP_006723471.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 396,
"cds_start": 89,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723408.4"
},
{
"aa_ref": "R",
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