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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: 11-985453-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=985453&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 985453,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242837.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "NM_012305.4",
"protein_id": "NP_036437.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 939,
"cds_start": 833,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448903.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012305.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000448903.7",
"protein_id": "ENSP00000413234.3",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 939,
"cds_start": 833,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012305.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448903.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000332231.9",
"protein_id": "ENSP00000327694.5",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 940,
"cds_start": 836,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332231.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "n.836G>A",
"hgvs_p": null,
"transcript": "ENST00000528815.5",
"protein_id": "ENSP00000431630.1",
"transcript_support_level": 2,
"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": "ENST00000528815.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "n.833G>A",
"hgvs_p": null,
"transcript": "ENST00000687792.1",
"protein_id": "ENSP00000508951.1",
"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": "ENST00000687792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "n.833G>A",
"hgvs_p": null,
"transcript": "ENST00000687890.1",
"protein_id": "ENSP00000510756.1",
"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": "ENST00000687890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "n.833G>A",
"hgvs_p": null,
"transcript": "ENST00000693238.1",
"protein_id": "ENSP00000510648.1",
"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": "ENST00000693238.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000860666.1",
"protein_id": "ENSP00000530725.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1004,
"cds_start": 833,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860666.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000860668.1",
"protein_id": "ENSP00000530727.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 958,
"cds_start": 833,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860668.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "NM_001242837.2",
"protein_id": "NP_001229766.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 940,
"cds_start": 836,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242837.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000860669.1",
"protein_id": "ENSP00000530728.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 937,
"cds_start": 836,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860669.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000947238.1",
"protein_id": "ENSP00000617297.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 937,
"cds_start": 836,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947238.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000860667.1",
"protein_id": "ENSP00000530726.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 906,
"cds_start": 734,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860667.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244His",
"transcript": "ENST00000860665.1",
"protein_id": "ENSP00000530724.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 905,
"cds_start": 731,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860665.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000916663.1",
"protein_id": "ENSP00000586722.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 898,
"cds_start": 836,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916663.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "XM_011519929.2",
"protein_id": "XP_011518231.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 864,
"cds_start": 608,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519929.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "XM_047426479.1",
"protein_id": "XP_047282435.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 864,
"cds_start": 608,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426479.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "XM_047426480.1",
"protein_id": "XP_047282436.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 864,
"cds_start": 608,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426480.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "XM_047426481.1",
"protein_id": "XP_047282437.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 864,
"cds_start": 608,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426481.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "XM_047426482.1",
"protein_id": "XP_047282438.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 864,
"cds_start": 608,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426482.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "XM_047426485.1",
"protein_id": "XP_047282441.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 864,
"cds_start": 608,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426485.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A2",
"gene_hgnc_id": 562,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Arg202His",
"transcript": "XM_047426484.1",
"protein_id": "XP_047282440.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 863,
"cds_start": 605,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"verdict": "Uncertain_significance",
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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
}