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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: 9-110136169-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=110136169&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 110136169,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374530.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "NM_007203.5",
"protein_id": "NP_009134.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 1103,
"cds_start": 625,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": "ENST00000374530.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000374530.8",
"protein_id": "ENSP00000363654.3",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 1103,
"cds_start": 625,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 7618,
"mane_select": "NM_007203.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Glu67Lys",
"transcript": "ENST00000434623.6",
"protein_id": "ENSP00000404782.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 961,
"cds_start": 199,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Glu67Lys",
"transcript": "ENST00000374525.5",
"protein_id": "ENSP00000363649.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 948,
"cds_start": 199,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Glu27Lys",
"transcript": "ENST00000480388.1",
"protein_id": "ENSP00000419268.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 777,
"cds_start": 79,
"cds_end": null,
"cds_length": 2336,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "NM_147150.3",
"protein_id": "NP_671492.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 1090,
"cds_start": 625,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "ENST00000302798.7",
"protein_id": "ENSP00000305861.7",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 1090,
"cds_start": 625,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Glu67Lys",
"transcript": "NM_001198656.1",
"protein_id": "NP_001185585.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 961,
"cds_start": 199,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 7003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Glu67Lys",
"transcript": "NM_001004065.4",
"protein_id": "NP_001004065.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 948,
"cds_start": 199,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"transcript": "XM_047423410.1",
"protein_id": "XP_047279366.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1335,
"cds_start": 1321,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"transcript": "XM_047423411.1",
"protein_id": "XP_047279367.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1322,
"cds_start": 1321,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Glu407Lys",
"transcript": "XM_047423412.1",
"protein_id": "XP_047279368.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1219,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 8212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Glu407Lys",
"transcript": "XM_047423413.1",
"protein_id": "XP_047279369.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1219,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"transcript": "XM_047423414.1",
"protein_id": "XP_047279370.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1321,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 8096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Glu407Lys",
"transcript": "XM_047423415.1",
"protein_id": "XP_047279371.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1219,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 7994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"transcript": "XM_047423416.1",
"protein_id": "XP_047279372.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1069,
"cds_start": 523,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 7516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"transcript": "XM_047423417.1",
"protein_id": "XP_047279373.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1056,
"cds_start": 523,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Glu209Lys",
"transcript": "XM_047423418.1",
"protein_id": "XP_047279374.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 1005,
"cds_start": 625,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 7400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"transcript": "XM_047423419.1",
"protein_id": "XP_047279375.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 971,
"cds_start": 523,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 7298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Glu67Lys",
"transcript": "XM_047423421.1",
"protein_id": "XP_047279377.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 863,
"cds_start": 199,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 6785,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "n.410G>A",
"hgvs_p": null,
"transcript": "ENST00000471798.1",
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM2AKAP2",
"gene_hgnc_id": 33529,
"hgvs_c": "c.-69G>A",
"hgvs_p": null,
"transcript": "NM_001136562.3",
"protein_id": "NP_001130034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}