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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: X-13768136-TAAAAGAC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13768136&ref=TAAAAGAC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13768136,
"ref": "TAAAAGAC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_003611.3",
"consequences": [
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2844_2850delAGACAAA",
"hgvs_p": "p.Lys948fs",
"transcript": "NM_003611.3",
"protein_id": "NP_003602.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2844,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340096.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003611.3"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2844_2850delAGACAAA",
"hgvs_p": "p.Lys948fs",
"transcript": "ENST00000340096.11",
"protein_id": "ENSP00000344314.6",
"transcript_support_level": 1,
"aa_start": 948,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2844,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003611.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340096.11"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2724_2730delAGACAAA",
"hgvs_p": "p.Lys908fs",
"transcript": "ENST00000380550.6",
"protein_id": "ENSP00000369923.3",
"transcript_support_level": 1,
"aa_start": 908,
"aa_end": null,
"aa_length": 972,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380550.6"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2847_2853delAGACAAA",
"hgvs_p": "p.Lys949fs",
"transcript": "ENST00000922714.1",
"protein_id": "ENSP00000592773.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2847,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922714.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2841_2847delAGACAAA",
"hgvs_p": "p.Lys947fs",
"transcript": "ENST00000922711.1",
"protein_id": "ENSP00000592770.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2841,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922711.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2736_2742delAGACAAA",
"hgvs_p": "p.Lys912fs",
"transcript": "ENST00000922712.1",
"protein_id": "ENSP00000592771.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 976,
"cds_start": 2736,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922712.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2733_2739delAGACAAA",
"hgvs_p": "p.Lys911fs",
"transcript": "NM_001440947.1",
"protein_id": "NP_001427876.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 975,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440947.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2733_2739delAGACAAA",
"hgvs_p": "p.Lys911fs",
"transcript": "ENST00000922710.1",
"protein_id": "ENSP00000592769.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 975,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922710.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2730_2736delAGACAAA",
"hgvs_p": "p.Lys910fs",
"transcript": "ENST00000967537.1",
"protein_id": "ENSP00000637596.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 974,
"cds_start": 2730,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967537.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2727_2733delAGACAAA",
"hgvs_p": "p.Lys909fs",
"transcript": "ENST00000922715.1",
"protein_id": "ENSP00000592774.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 973,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922715.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2724_2730delAGACAAA",
"hgvs_p": "p.Lys908fs",
"transcript": "NM_001330209.2",
"protein_id": "NP_001317138.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 972,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330209.2"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2721_2727delAGACAAA",
"hgvs_p": "p.Lys907fs",
"transcript": "ENST00000967536.1",
"protein_id": "ENSP00000637595.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 971,
"cds_start": 2721,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967536.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2613_2619delAGACAAA",
"hgvs_p": "p.Lys871fs",
"transcript": "NM_001440948.1",
"protein_id": "NP_001427877.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 935,
"cds_start": 2613,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440948.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2613_2619delAGACAAA",
"hgvs_p": "p.Lys871fs",
"transcript": "ENST00000922709.1",
"protein_id": "ENSP00000592768.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 935,
"cds_start": 2613,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922709.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2424_2430delAGACAAA",
"hgvs_p": "p.Lys808fs",
"transcript": "NM_001330210.2",
"protein_id": "NP_001317139.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 872,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330210.2"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2238_2244delAGACAAA",
"hgvs_p": "p.Lys746fs",
"transcript": "ENST00000922713.1",
"protein_id": "ENSP00000592772.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 810,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922713.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2865_2871delAGACAAA",
"hgvs_p": "p.Lys955fs",
"transcript": "XM_047442583.1",
"protein_id": "XP_047298539.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2865,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442583.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2865_2871delAGACAAA",
"hgvs_p": "p.Lys955fs",
"transcript": "XM_047442584.1",
"protein_id": "XP_047298540.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2865,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442584.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2754_2760delAGACAAA",
"hgvs_p": "p.Lys918fs",
"transcript": "XM_047442585.1",
"protein_id": "XP_047298541.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 982,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442585.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2745_2751delAGACAAA",
"hgvs_p": "p.Lys915fs",
"transcript": "XM_047442586.1",
"protein_id": "XP_047298542.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 979,
"cds_start": 2745,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442586.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
"hgvs_c": "c.2754_2760delAGACAAA",
"hgvs_p": "p.Lys918fs",
"transcript": "XM_047442588.1",
"protein_id": "XP_047298544.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 969,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442588.1"
},
{
"aa_ref": "KDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OFD1",
"gene_hgnc_id": 2567,
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{
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Joubert syndrome 10",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}