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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: 17-46033130-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46033130&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46033130,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_015443.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "NM_015443.4",
"protein_id": "NP_056258.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "ENST00000432791.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015443.4"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "ENST00000432791.7",
"protein_id": "ENSP00000387393.3",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "NM_015443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432791.7"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "ENST00000262419.10",
"protein_id": "ENSP00000262419.6",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262419.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "n.7002_7003delAG",
"hgvs_p": null,
"transcript": "ENST00000572218.5",
"protein_id": null,
"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": 9095,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000572218.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2836_2837delAG",
"hgvs_p": "p.Arg946fs",
"transcript": "ENST00000918919.1",
"protein_id": "ENSP00000588978.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3515,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918919.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "NM_001193466.2",
"protein_id": "NP_001180395.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193466.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "NM_001379198.1",
"protein_id": "NP_001366127.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379198.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "NM_001405854.1",
"protein_id": "NP_001392783.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405854.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "NM_001405855.1",
"protein_id": "NP_001392784.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405855.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2785_2786delAG",
"hgvs_p": "p.Arg929fs",
"transcript": "ENST00000572904.6",
"protein_id": "ENSP00000461484.1",
"transcript_support_level": 5,
"aa_start": 929,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2881,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572904.6"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "NM_001193465.2",
"protein_id": "NP_001180394.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193465.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "NM_001405856.1",
"protein_id": "NP_001392785.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3236,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405856.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "NM_001405857.1",
"protein_id": "NP_001392786.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405857.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "NM_001405858.1",
"protein_id": "NP_001392787.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405858.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "ENST00000574590.6",
"protein_id": "ENSP00000461812.2",
"transcript_support_level": 2,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574590.6"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "ENST00000902802.1",
"protein_id": "ENSP00000572861.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902802.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2782_2783delAG",
"hgvs_p": "p.Arg928fs",
"transcript": "ENST00000902804.1",
"protein_id": "ENSP00000572863.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 5360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902804.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2776_2777delAG",
"hgvs_p": "p.Arg926fs",
"transcript": "ENST00000902805.1",
"protein_id": "ENSP00000572864.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902805.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2683_2684delAG",
"hgvs_p": "p.Arg895fs",
"transcript": "NM_001405859.1",
"protein_id": "NP_001392788.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2683,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405859.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2683_2684delAG",
"hgvs_p": "p.Arg895fs",
"transcript": "NM_001405860.1",
"protein_id": "NP_001392789.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2683,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405860.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2683_2684delAG",
"hgvs_p": "p.Arg895fs",
"transcript": "ENST00000902801.1",
"protein_id": "ENSP00000572860.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2683,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902801.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2683_2684delAG",
"hgvs_p": "p.Arg895fs",
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{
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"clinvar_review_status": "no assertion criteria provided",
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"phenotype_combined": "Koolen-de Vries syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}